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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs369894676

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:94308892 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000012 (3/249008, GnomAD_exome)
C=0.000008 (1/120576, ExAC)
C=0.00005 (2/44390, ALFA) (+ 1 more)
C=0.00017 (2/11856, GO-ESP)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CEP83 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele
Total Global 44390 G=0.99995 A=0.00000, C=0.00005
European Sub 32624 G=0.99994 A=0.00000, C=0.00006
African Sub 3512 G=1.0000 A=0.0000, C=0.0000
African Others Sub 122 G=1.000 A=0.000, C=0.000
African American Sub 3390 G=1.0000 A=0.0000, C=0.0000
Asian Sub 168 G=1.000 A=0.000, C=0.000
East Asian Sub 112 G=1.000 A=0.000, C=0.000
Other Asian Sub 56 G=1.00 A=0.00, C=0.00
Latin American 1 Sub 500 G=1.000 A=0.000, C=0.000
Latin American 2 Sub 628 G=1.000 A=0.000, C=0.000
South Asian Sub 98 G=1.00 A=0.00, C=0.00
Other Sub 6860 G=1.0000 A=0.0000, C=0.0000


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 249008 G=0.999988 C=0.000012
gnomAD - Exomes European Sub 134394 G=0.999978 C=0.000022
gnomAD - Exomes Asian Sub 48546 G=1.00000 C=0.00000
gnomAD - Exomes American Sub 34490 G=1.00000 C=0.00000
gnomAD - Exomes African Sub 15470 G=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10068 G=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6040 G=1.0000 C=0.0000
ExAC Global Study-wide 120576 G=0.999992 C=0.000008
ExAC Europe Sub 73270 G=0.99999 C=0.00001
ExAC Asian Sub 25114 G=1.00000 C=0.00000
ExAC American Sub 11500 G=1.00000 C=0.00000
ExAC African Sub 9794 G=1.0000 C=0.0000
ExAC Other Sub 898 G=1.000 C=0.000
Allele Frequency Aggregator Total Global 44390 G=0.99995 A=0.00000, C=0.00005
Allele Frequency Aggregator European Sub 32624 G=0.99994 A=0.00000, C=0.00006
Allele Frequency Aggregator Other Sub 6860 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator African Sub 3512 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Asian Sub 168 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00, C=0.00
GO Exome Sequencing Project Global Study-wide 11856 G=0.99983 C=0.00017
GO Exome Sequencing Project European American Sub 8168 G=0.9998 C=0.0002
GO Exome Sequencing Project African American Sub 3688 G=1.0000 C=0.0000
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 12 NC_000012.12:g.94308892G>A
GRCh38.p14 chr 12 NC_000012.12:g.94308892G>C
GRCh37.p13 chr 12 NC_000012.11:g.94702668G>A
GRCh37.p13 chr 12 NC_000012.11:g.94702668G>C
PLXNC1 RefSeqGene NG_050648.1:g.165170G>A
PLXNC1 RefSeqGene NG_050648.1:g.165170G>C
CEP83 RefSeqGene NG_051825.1:g.156097C>T
CEP83 RefSeqGene NG_051825.1:g.156097C>G
Gene: CEP83, centrosomal protein 83 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CEP83 transcript variant 6 NM_001346460.2:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant 7 NM_001346461.2:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant 8 NM_001346462.2:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant 15 NM_001368042.1:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant 10 NM_001368037.1:c.2027C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001354966.1:p.Ser676Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant 10 NM_001368037.1:c.2027C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001354966.1:p.Ser676Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant 14 NM_001368041.1:c.1802C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform e NP_001354970.1:p.Ser601Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant 14 NM_001368041.1:c.1802C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform e NP_001354970.1:p.Ser601Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant 11 NM_001368038.1:c.2027C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001354967.1:p.Ser676Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant 11 NM_001368038.1:c.2027C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001354967.1:p.Ser676Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant 12 NM_001368039.1:c.1715C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001354968.1:p.Ser572Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant 12 NM_001368039.1:c.1715C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001354968.1:p.Ser572Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant 13 NM_001368040.1:c.1715C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001354969.1:p.Ser572Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant 13 NM_001368040.1:c.1715C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001354969.1:p.Ser572Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant 1 NM_016122.3:c.2027C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_057206.2:p.Ser676Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant 1 NM_016122.3:c.2027C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_057206.2:p.Ser676Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant 3 NM_001346457.2:c.2027C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001333386.1:p.Ser676Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant 3 NM_001346457.2:c.2027C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001333386.1:p.Ser676Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant 5 NM_001346459.2:c.1715C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001333388.1:p.Ser572Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant 5 NM_001346459.2:c.1715C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001333388.1:p.Ser572Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant 4 NM_001346458.2:c.1715C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001333387.1:p.Ser572Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant 4 NM_001346458.2:c.1715C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform b NP_001333387.1:p.Ser572Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant 2 NM_001042399.2:c.2027C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001035858.1:p.Ser676Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant 2 NM_001042399.2:c.2027C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform a NP_001035858.1:p.Ser676Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant 17 NR_160432.1:n.2772C>T N/A Non Coding Transcript Variant
CEP83 transcript variant 17 NR_160432.1:n.2772C>G N/A Non Coding Transcript Variant
CEP83 transcript variant 16 NR_160431.1:n.1751C>T N/A Non Coding Transcript Variant
CEP83 transcript variant 16 NR_160431.1:n.1751C>G N/A Non Coding Transcript Variant
CEP83 transcript variant 9 NR_144441.2:n. N/A Genic Downstream Transcript Variant
CEP83 transcript variant X16 XM_047428928.1:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant X17 XM_047428929.1:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant X18 XM_047428930.1:c. N/A Genic Downstream Transcript Variant
CEP83 transcript variant X3 XM_047428922.1:c.2027C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_047284878.1:p.Ser676Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant X3 XM_047428922.1:c.2027C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_047284878.1:p.Ser676Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant X5 XM_011538424.3:c.2027C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_011536726.1:p.Ser676Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant X5 XM_011538424.3:c.2027C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_011536726.1:p.Ser676Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant X7 XM_047428923.1:c.2027C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_047284879.1:p.Ser676Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant X7 XM_047428923.1:c.2027C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_047284879.1:p.Ser676Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant X8 XM_017019385.3:c.2027C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_016874874.1:p.Ser676Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant X8 XM_017019385.3:c.2027C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_016874874.1:p.Ser676Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant X9 XM_017019386.3:c.2027C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_016874875.1:p.Ser676Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant X9 XM_017019386.3:c.2027C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X1 XP_016874875.1:p.Ser676Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant X11 XM_017019389.3:c.1640C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X2 XP_016874878.1:p.Ser547Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant X11 XM_017019389.3:c.1640C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X2 XP_016874878.1:p.Ser547Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant X12 XM_047428925.1:c.1613C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_047284881.1:p.Ser538Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant X12 XM_047428925.1:c.1613C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_047284881.1:p.Ser538Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant X13 XM_047428926.1:c.1613C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_047284882.1:p.Ser538Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant X13 XM_047428926.1:c.1613C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_047284882.1:p.Ser538Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant X14 XM_024449005.2:c.1613C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_024304773.1:p.Ser538Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant X14 XM_024449005.2:c.1613C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_024304773.1:p.Ser538Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant X15 XM_047428927.1:c.1613C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_047284883.1:p.Ser538Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant X15 XM_047428927.1:c.1613C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X3 XP_047284883.1:p.Ser538Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant X19 XM_024449007.2:c.1253C>T S [TCT] > F [TTT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X6 XP_024304775.1:p.Ser418Phe S (Ser) > F (Phe) Missense Variant
CEP83 transcript variant X19 XM_024449007.2:c.1253C>G S [TCT] > C [TGT] Coding Sequence Variant
centrosomal protein of 83 kDa isoform X6 XP_024304775.1:p.Ser418Cys S (Ser) > C (Cys) Missense Variant
CEP83 transcript variant X1 XR_007063080.1:n.2439C>T N/A Non Coding Transcript Variant
CEP83 transcript variant X1 XR_007063080.1:n.2439C>G N/A Non Coding Transcript Variant
CEP83 transcript variant X2 XR_007063081.1:n.2439C>T N/A Non Coding Transcript Variant
CEP83 transcript variant X2 XR_007063081.1:n.2439C>G N/A Non Coding Transcript Variant
CEP83 transcript variant X4 XR_007063082.1:n.2439C>T N/A Non Coding Transcript Variant
CEP83 transcript variant X4 XR_007063082.1:n.2439C>G N/A Non Coding Transcript Variant
CEP83 transcript variant X6 XR_007063083.1:n.2439C>T N/A Non Coding Transcript Variant
CEP83 transcript variant X6 XR_007063083.1:n.2439C>G N/A Non Coding Transcript Variant
CEP83 transcript variant X10 XR_007063084.1:n. N/A Genic Downstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: C (allele ID: 1402062 )
ClinVar Accession Disease Names Clinical Significance
RCV002017377.1 Nephronophthisis 18 Uncertain-Significance
RCV002272559.1 not provided Uncertain-Significance
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= A C
GRCh38.p14 chr 12 NC_000012.12:g.94308892= NC_000012.12:g.94308892G>A NC_000012.12:g.94308892G>C
GRCh37.p13 chr 12 NC_000012.11:g.94702668= NC_000012.11:g.94702668G>A NC_000012.11:g.94702668G>C
PLXNC1 RefSeqGene NG_050648.1:g.165170= NG_050648.1:g.165170G>A NG_050648.1:g.165170G>C
CEP83 RefSeqGene NG_051825.1:g.156097= NG_051825.1:g.156097C>T NG_051825.1:g.156097C>G
CEP83 transcript variant 1 NM_016122.3:c.2027= NM_016122.3:c.2027C>T NM_016122.3:c.2027C>G
CEP83 transcript variant 1 NM_016122.2:c.2027= NM_016122.2:c.2027C>T NM_016122.2:c.2027C>G
CEP83 transcript variant 2 NM_001042399.2:c.2027= NM_001042399.2:c.2027C>T NM_001042399.2:c.2027C>G
CEP83 transcript variant 2 NM_001042399.1:c.2027= NM_001042399.1:c.2027C>T NM_001042399.1:c.2027C>G
CEP83 transcript variant 4 NM_001346458.2:c.1715= NM_001346458.2:c.1715C>T NM_001346458.2:c.1715C>G
CEP83 transcript variant 4 NM_001346458.1:c.1715= NM_001346458.1:c.1715C>T NM_001346458.1:c.1715C>G
CEP83 transcript variant 5 NM_001346459.2:c.1715= NM_001346459.2:c.1715C>T NM_001346459.2:c.1715C>G
CEP83 transcript variant 5 NM_001346459.1:c.1715= NM_001346459.1:c.1715C>T NM_001346459.1:c.1715C>G
CEP83 transcript variant 3 NM_001346457.2:c.2027= NM_001346457.2:c.2027C>T NM_001346457.2:c.2027C>G
CEP83 transcript variant 3 NM_001346457.1:c.2027= NM_001346457.1:c.2027C>T NM_001346457.1:c.2027C>G
CEP83 transcript variant 17 NR_160432.1:n.2772= NR_160432.1:n.2772C>T NR_160432.1:n.2772C>G
CEP83 transcript variant 10 NM_001368037.1:c.2027= NM_001368037.1:c.2027C>T NM_001368037.1:c.2027C>G
CEP83 transcript variant 11 NM_001368038.1:c.2027= NM_001368038.1:c.2027C>T NM_001368038.1:c.2027C>G
CEP83 transcript variant 12 NM_001368039.1:c.1715= NM_001368039.1:c.1715C>T NM_001368039.1:c.1715C>G
CEP83 transcript variant 14 NM_001368041.1:c.1802= NM_001368041.1:c.1802C>T NM_001368041.1:c.1802C>G
CEP83 transcript variant 13 NM_001368040.1:c.1715= NM_001368040.1:c.1715C>T NM_001368040.1:c.1715C>G
CEP83 transcript variant 16 NR_160431.1:n.1751= NR_160431.1:n.1751C>T NR_160431.1:n.1751C>G
CEP83 transcript variant X9 XM_017019386.3:c.2027= XM_017019386.3:c.2027C>T XM_017019386.3:c.2027C>G
CEP83 transcript variant X9 XM_017019386.2:c.2027= XM_017019386.2:c.2027C>T XM_017019386.2:c.2027C>G
CEP83 transcript variant X9 XM_017019386.1:c.2027= XM_017019386.1:c.2027C>T XM_017019386.1:c.2027C>G
CEP83 transcript variant X5 XM_011538424.3:c.2027= XM_011538424.3:c.2027C>T XM_011538424.3:c.2027C>G
CEP83 transcript variant X1 XM_011538424.2:c.2027= XM_011538424.2:c.2027C>T XM_011538424.2:c.2027C>G
CEP83 transcript variant X2 XM_011538424.1:c.2027= XM_011538424.1:c.2027C>T XM_011538424.1:c.2027C>G
CEP83 transcript variant X11 XM_017019389.3:c.1640= XM_017019389.3:c.1640C>T XM_017019389.3:c.1640C>G
CEP83 transcript variant X15 XM_017019389.2:c.1640= XM_017019389.2:c.1640C>T XM_017019389.2:c.1640C>G
CEP83 transcript variant X15 XM_017019389.1:c.1640= XM_017019389.1:c.1640C>T XM_017019389.1:c.1640C>G
CEP83 transcript variant X8 XM_017019385.3:c.2027= XM_017019385.3:c.2027C>T XM_017019385.3:c.2027C>G
CEP83 transcript variant X8 XM_017019385.2:c.2027= XM_017019385.2:c.2027C>T XM_017019385.2:c.2027C>G
CEP83 transcript variant X8 XM_017019385.1:c.2027= XM_017019385.1:c.2027C>T XM_017019385.1:c.2027C>G
CEP83 transcript variant X14 XM_024449005.2:c.1613= XM_024449005.2:c.1613C>T XM_024449005.2:c.1613C>G
CEP83 transcript variant X16 XM_024449005.1:c.1613= XM_024449005.1:c.1613C>T XM_024449005.1:c.1613C>G
CEP83 transcript variant X19 XM_024449007.2:c.1253= XM_024449007.2:c.1253C>T XM_024449007.2:c.1253C>G
CEP83 transcript variant X20 XM_024449007.1:c.1253= XM_024449007.1:c.1253C>T XM_024449007.1:c.1253C>G
CEP83 transcript variant X7 XM_047428923.1:c.2027= XM_047428923.1:c.2027C>T XM_047428923.1:c.2027C>G
CEP83 transcript variant X3 XM_047428922.1:c.2027= XM_047428922.1:c.2027C>T XM_047428922.1:c.2027C>G
CEP83 transcript variant X4 XR_007063082.1:n.2439= XR_007063082.1:n.2439C>T XR_007063082.1:n.2439C>G
CEP83 transcript variant X12 XM_047428925.1:c.1613= XM_047428925.1:c.1613C>T XM_047428925.1:c.1613C>G
CEP83 transcript variant X15 XM_047428927.1:c.1613= XM_047428927.1:c.1613C>T XM_047428927.1:c.1613C>G
CEP83 transcript variant X13 XM_047428926.1:c.1613= XM_047428926.1:c.1613C>T XM_047428926.1:c.1613C>G
CEP83 transcript variant X1 XR_007063080.1:n.2439= XR_007063080.1:n.2439C>T XR_007063080.1:n.2439C>G
CEP83 transcript variant X6 XR_007063083.1:n.2439= XR_007063083.1:n.2439C>T XR_007063083.1:n.2439C>G
CEP83 transcript variant X2 XR_007063081.1:n.2439= XR_007063081.1:n.2439C>T XR_007063081.1:n.2439C>G
centrosomal protein of 83 kDa isoform a NP_057206.2:p.Ser676= NP_057206.2:p.Ser676Phe NP_057206.2:p.Ser676Cys
centrosomal protein of 83 kDa isoform a NP_001035858.1:p.Ser676= NP_001035858.1:p.Ser676Phe NP_001035858.1:p.Ser676Cys
centrosomal protein of 83 kDa isoform b NP_001333387.1:p.Ser572= NP_001333387.1:p.Ser572Phe NP_001333387.1:p.Ser572Cys
centrosomal protein of 83 kDa isoform b NP_001333388.1:p.Ser572= NP_001333388.1:p.Ser572Phe NP_001333388.1:p.Ser572Cys
centrosomal protein of 83 kDa isoform a NP_001333386.1:p.Ser676= NP_001333386.1:p.Ser676Phe NP_001333386.1:p.Ser676Cys
centrosomal protein of 83 kDa isoform a NP_001354966.1:p.Ser676= NP_001354966.1:p.Ser676Phe NP_001354966.1:p.Ser676Cys
centrosomal protein of 83 kDa isoform a NP_001354967.1:p.Ser676= NP_001354967.1:p.Ser676Phe NP_001354967.1:p.Ser676Cys
centrosomal protein of 83 kDa isoform b NP_001354968.1:p.Ser572= NP_001354968.1:p.Ser572Phe NP_001354968.1:p.Ser572Cys
centrosomal protein of 83 kDa isoform e NP_001354970.1:p.Ser601= NP_001354970.1:p.Ser601Phe NP_001354970.1:p.Ser601Cys
centrosomal protein of 83 kDa isoform b NP_001354969.1:p.Ser572= NP_001354969.1:p.Ser572Phe NP_001354969.1:p.Ser572Cys
centrosomal protein of 83 kDa isoform X1 XP_016874875.1:p.Ser676= XP_016874875.1:p.Ser676Phe XP_016874875.1:p.Ser676Cys
centrosomal protein of 83 kDa isoform X1 XP_011536726.1:p.Ser676= XP_011536726.1:p.Ser676Phe XP_011536726.1:p.Ser676Cys
centrosomal protein of 83 kDa isoform X2 XP_016874878.1:p.Ser547= XP_016874878.1:p.Ser547Phe XP_016874878.1:p.Ser547Cys
centrosomal protein of 83 kDa isoform X1 XP_016874874.1:p.Ser676= XP_016874874.1:p.Ser676Phe XP_016874874.1:p.Ser676Cys
centrosomal protein of 83 kDa isoform X3 XP_024304773.1:p.Ser538= XP_024304773.1:p.Ser538Phe XP_024304773.1:p.Ser538Cys
centrosomal protein of 83 kDa isoform X6 XP_024304775.1:p.Ser418= XP_024304775.1:p.Ser418Phe XP_024304775.1:p.Ser418Cys
centrosomal protein of 83 kDa isoform X1 XP_047284879.1:p.Ser676= XP_047284879.1:p.Ser676Phe XP_047284879.1:p.Ser676Cys
centrosomal protein of 83 kDa isoform X1 XP_047284878.1:p.Ser676= XP_047284878.1:p.Ser676Phe XP_047284878.1:p.Ser676Cys
centrosomal protein of 83 kDa isoform X3 XP_047284881.1:p.Ser538= XP_047284881.1:p.Ser538Phe XP_047284881.1:p.Ser538Cys
centrosomal protein of 83 kDa isoform X3 XP_047284883.1:p.Ser538= XP_047284883.1:p.Ser538Phe XP_047284883.1:p.Ser538Cys
centrosomal protein of 83 kDa isoform X3 XP_047284882.1:p.Ser538= XP_047284882.1:p.Ser538Phe XP_047284882.1:p.Ser538Cys
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

12 SubSNP, 8 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss713110508 Apr 25, 2013 (138)
2 EVA_EXAC ss1691047292 Apr 01, 2015 (144)
3 HUMAN_LONGEVITY ss2192236610 Dec 20, 2016 (150)
4 GNOMAD ss2740036770 Nov 08, 2017 (151)
5 AFFY ss2984987290 Nov 08, 2017 (151)
6 EVA ss3824757678 Apr 27, 2020 (154)
7 GNOMAD ss4257023141 Apr 26, 2021 (155)
8 GNOMAD ss4257023142 Apr 26, 2021 (155)
9 TOPMED ss4928797970 Apr 26, 2021 (155)
10 TOPMED ss4928797971 Apr 26, 2021 (155)
11 HUGCELL_USP ss5486474198 Oct 16, 2022 (156)
12 EVA ss5838356693 Oct 16, 2022 (156)
13 ExAC NC_000012.11 - 94702668 Oct 12, 2018 (152)
14 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 416019325 (NC_000012.12:94308891:G:A 1/140226)
Row 416019326 (NC_000012.12:94308891:G:C 1/140226)

- Apr 26, 2021 (155)
15 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 416019325 (NC_000012.12:94308891:G:A 1/140226)
Row 416019326 (NC_000012.12:94308891:G:C 1/140226)

- Apr 26, 2021 (155)
16 gnomAD - Exomes NC_000012.11 - 94702668 Jul 13, 2019 (153)
17 GO Exome Sequencing Project NC_000012.11 - 94702668 Oct 12, 2018 (152)
18 TopMed

Submission ignored due to conflicting rows:
Row 144343627 (NC_000012.12:94308891:G:A 1/264690)
Row 144343628 (NC_000012.12:94308891:G:C 7/264690)

- Apr 26, 2021 (155)
19 TopMed

Submission ignored due to conflicting rows:
Row 144343627 (NC_000012.12:94308891:G:A 1/264690)
Row 144343628 (NC_000012.12:94308891:G:C 7/264690)

- Apr 26, 2021 (155)
20 ALFA NC_000012.12 - 94308892 Apr 26, 2021 (155)
21 ClinVar RCV002017377.1 Oct 16, 2022 (156)
22 ClinVar RCV002272559.1 Oct 16, 2022 (156)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
10818879306, ss2192236610, ss4257023141, ss4928797970 NC_000012.12:94308891:G:A NC_000012.12:94308891:G:A (self)
1356035, 9272097, 1215128, ss713110508, ss1691047292, ss2740036770, ss2984987290, ss3824757678, ss5838356693 NC_000012.11:94702667:G:C NC_000012.12:94308891:G:C (self)
RCV002017377.1, RCV002272559.1, 10818879306, ss2192236610, ss4257023142, ss4928797971, ss5486474198 NC_000012.12:94308891:G:C NC_000012.12:94308891:G:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs369894676

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post774+babeb33