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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.

rs1830136626

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:106925085 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
None
Clinical Significance
Reported in ClinVar
Gene : Consequence
ZNF462 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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").

None
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 9 NC_000009.12:g.106925085G>C
GRCh37.p13 chr 9 NC_000009.11:g.109687366G>C
ZNF462 RefSeqGene NG_052913.1:g.66989G>C
Gene: ZNF462, zinc finger protein 462 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZNF462 transcript variant 1 NM_021224.6:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform 1 NP_067047.4:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant 2 NM_001347997.2:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform 2 NP_001334926.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X11 XM_024447629.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X1 XP_024303397.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X1 XM_006717209.5:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X1 XP_006717272.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X2 XM_047423661.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X1 XP_047279617.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X3 XM_006717212.5:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X1 XP_006717275.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X4 XM_047423662.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X1 XP_047279618.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X5 XM_047423663.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X1 XP_047279619.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X6 XM_017014997.3:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X1 XP_016870486.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X7 XM_047423664.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X1 XP_047279620.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X8 XM_017014996.3:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X1 XP_016870485.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X9 XM_006717211.5:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X1 XP_006717274.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X10 XM_047423665.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X1 XP_047279621.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X12 XM_047423666.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X1 XP_047279622.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X13 XM_047423667.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X1 XP_047279623.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X14 XM_047423668.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X2 XP_047279624.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X15 XM_006717215.5:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X2 XP_006717278.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X16 XM_047423669.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X2 XP_047279625.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X17 XM_047423670.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X2 XP_047279626.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X18 XM_047423671.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X2 XP_047279627.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X19 XM_006717216.5:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X3 XP_006717279.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X20 XM_047423672.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X3 XP_047279628.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X21 XM_047423673.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X3 XP_047279629.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X22 XM_047423674.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X3 XP_047279630.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X23 XM_047423675.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X3 XP_047279631.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X24 XM_047423676.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X3 XP_047279632.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X25 XM_047423677.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X3 XP_047279633.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X26 XM_047423678.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X3 XP_047279634.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X27 XM_047423679.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X4 XP_047279635.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X28 XM_047423680.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X4 XP_047279636.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X29 XM_047423681.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X4 XP_047279637.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X30 XM_047423682.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X5 XP_047279638.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X31 XM_047423683.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X5 XP_047279639.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X32 XM_017014998.3:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X6 XP_016870487.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X33 XM_047423684.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X6 XP_047279640.1:p.Glu391Asp E (Glu) > D (Asp) Missense Variant
ZNF462 transcript variant X34 XM_047423685.1:c.1173G>C E [GAG] > D [GAC] Coding Sequence Variant
zinc finger protein 462 isoform X6 XP_047279641.1:p.Glu391Asp E (Glu) > D (Asp) Missense 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: 1017102 )
ClinVar Accession Disease Names Clinical Significance
RCV001331189.1 Weiss-kruszka syndrome 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= C
GRCh38.p14 chr 9 NC_000009.12:g.106925085= NC_000009.12:g.106925085G>C
GRCh37.p13 chr 9 NC_000009.11:g.109687366= NC_000009.11:g.109687366G>C
ZNF462 RefSeqGene NG_052913.1:g.66989= NG_052913.1:g.66989G>C
ZNF462 transcript variant 1 NM_021224.6:c.1173= NM_021224.6:c.1173G>C
ZNF462 transcript variant 1 NM_021224.5:c.1173= NM_021224.5:c.1173G>C
ZNF462 transcript NM_021224.4:c.1173= NM_021224.4:c.1173G>C
ZNF462 transcript variant 2 NM_001347997.2:c.1173= NM_001347997.2:c.1173G>C
ZNF462 transcript variant 2 NM_001347997.1:c.1173= NM_001347997.1:c.1173G>C
ZNF462 transcript variant X15 XM_006717215.5:c.1173= XM_006717215.5:c.1173G>C
ZNF462 transcript variant X7 XM_006717215.4:c.1173= XM_006717215.4:c.1173G>C
ZNF462 transcript variant X7 XM_006717215.3:c.1173= XM_006717215.3:c.1173G>C
ZNF462 transcript variant X6 XM_006717215.2:c.1173= XM_006717215.2:c.1173G>C
ZNF462 transcript variant X7 XM_006717215.1:c.1173= XM_006717215.1:c.1173G>C
ZNF462 transcript variant X19 XM_006717216.5:c.1173= XM_006717216.5:c.1173G>C
ZNF462 transcript variant X8 XM_006717216.4:c.1173= XM_006717216.4:c.1173G>C
ZNF462 transcript variant X8 XM_006717216.3:c.1173= XM_006717216.3:c.1173G>C
ZNF462 transcript variant X7 XM_006717216.2:c.1173= XM_006717216.2:c.1173G>C
ZNF462 transcript variant X8 XM_006717216.1:c.1173= XM_006717216.1:c.1173G>C
ZNF462 transcript variant X9 XM_006717211.5:c.1173= XM_006717211.5:c.1173G>C
ZNF462 transcript variant X4 XM_006717211.4:c.1173= XM_006717211.4:c.1173G>C
ZNF462 transcript variant X4 XM_006717211.3:c.1173= XM_006717211.3:c.1173G>C
ZNF462 transcript variant X4 XM_006717211.2:c.1173= XM_006717211.2:c.1173G>C
ZNF462 transcript variant X3 XM_006717211.1:c.1173= XM_006717211.1:c.1173G>C
ZNF462 transcript variant X1 XM_006717209.5:c.1173= XM_006717209.5:c.1173G>C
ZNF462 transcript variant X1 XM_006717209.4:c.1173= XM_006717209.4:c.1173G>C
ZNF462 transcript variant X2 XM_006717209.3:c.1173= XM_006717209.3:c.1173G>C
ZNF462 transcript variant X2 XM_006717209.2:c.1173= XM_006717209.2:c.1173G>C
ZNF462 transcript variant X1 XM_006717209.1:c.1173= XM_006717209.1:c.1173G>C
ZNF462 transcript variant X3 XM_006717212.5:c.1173= XM_006717212.5:c.1173G>C
ZNF462 transcript variant X3 XM_006717212.4:c.1173= XM_006717212.4:c.1173G>C
ZNF462 transcript variant X3 XM_006717212.3:c.1173= XM_006717212.3:c.1173G>C
ZNF462 transcript variant X5 XM_006717212.2:c.1173= XM_006717212.2:c.1173G>C
ZNF462 transcript variant X4 XM_006717212.1:c.1173= XM_006717212.1:c.1173G>C
ZNF462 transcript variant X6 XM_017014997.3:c.1173= XM_017014997.3:c.1173G>C
ZNF462 transcript variant X6 XM_017014997.2:c.1173= XM_017014997.2:c.1173G>C
ZNF462 transcript variant X6 XM_017014997.1:c.1173= XM_017014997.1:c.1173G>C
ZNF462 transcript variant X8 XM_017014996.3:c.1173= XM_017014996.3:c.1173G>C
ZNF462 transcript variant X5 XM_017014996.2:c.1173= XM_017014996.2:c.1173G>C
ZNF462 transcript variant X5 XM_017014996.1:c.1173= XM_017014996.1:c.1173G>C
ZNF462 transcript variant X32 XM_017014998.3:c.1173= XM_017014998.3:c.1173G>C
ZNF462 transcript variant X10 XM_017014998.2:c.1173= XM_017014998.2:c.1173G>C
ZNF462 transcript variant X10 XM_017014998.1:c.1173= XM_017014998.1:c.1173G>C
ZNF462 transcript variant X18 XM_047423671.1:c.1173= XM_047423671.1:c.1173G>C
ZNF462 transcript variant X26 XM_047423678.1:c.1173= XM_047423678.1:c.1173G>C
ZNF462 transcript variant X12 XM_047423666.1:c.1173= XM_047423666.1:c.1173G>C
ZNF462 transcript variant X22 XM_047423674.1:c.1173= XM_047423674.1:c.1173G>C
ZNF462 transcript variant X2 XM_047423661.1:c.1173= XM_047423661.1:c.1173G>C
ZNF462 transcript variant X13 XM_047423667.1:c.1173= XM_047423667.1:c.1173G>C
ZNF462 transcript variant X5 XM_047423663.1:c.1173= XM_047423663.1:c.1173G>C
ZNF462 transcript variant X11 XM_024447629.1:c.1173= XM_024447629.1:c.1173G>C
ZNF462 transcript variant X7 XM_047423664.1:c.1173= XM_047423664.1:c.1173G>C
ZNF462 transcript variant X23 XM_047423675.1:c.1173= XM_047423675.1:c.1173G>C
ZNF462 transcript variant X4 XM_047423662.1:c.1173= XM_047423662.1:c.1173G>C
ZNF462 transcript variant X25 XM_047423677.1:c.1173= XM_047423677.1:c.1173G>C
ZNF462 transcript variant X17 XM_047423670.1:c.1173= XM_047423670.1:c.1173G>C
ZNF462 transcript variant X20 XM_047423672.1:c.1173= XM_047423672.1:c.1173G>C
ZNF462 transcript variant X10 XM_047423665.1:c.1173= XM_047423665.1:c.1173G>C
ZNF462 transcript variant X21 XM_047423673.1:c.1173= XM_047423673.1:c.1173G>C
ZNF462 transcript variant X14 XM_047423668.1:c.1173= XM_047423668.1:c.1173G>C
ZNF462 transcript variant X16 XM_047423669.1:c.1173= XM_047423669.1:c.1173G>C
ZNF462 transcript variant X24 XM_047423676.1:c.1173= XM_047423676.1:c.1173G>C
ZNF462 transcript variant X28 XM_047423680.1:c.1173= XM_047423680.1:c.1173G>C
ZNF462 transcript variant X34 XM_047423685.1:c.1173= XM_047423685.1:c.1173G>C
ZNF462 transcript variant X27 XM_047423679.1:c.1173= XM_047423679.1:c.1173G>C
ZNF462 transcript variant X30 XM_047423682.1:c.1173= XM_047423682.1:c.1173G>C
ZNF462 transcript variant X29 XM_047423681.1:c.1173= XM_047423681.1:c.1173G>C
ZNF462 transcript variant X31 XM_047423683.1:c.1173= XM_047423683.1:c.1173G>C
ZNF462 transcript variant X33 XM_047423684.1:c.1173= XM_047423684.1:c.1173G>C
zinc finger protein 462 isoform 1 NP_067047.4:p.Glu391= NP_067047.4:p.Glu391Asp
zinc finger protein 462 isoform 2 NP_001334926.1:p.Glu391= NP_001334926.1:p.Glu391Asp
zinc finger protein 462 isoform X2 XP_006717278.1:p.Glu391= XP_006717278.1:p.Glu391Asp
zinc finger protein 462 isoform X3 XP_006717279.1:p.Glu391= XP_006717279.1:p.Glu391Asp
zinc finger protein 462 isoform X1 XP_006717274.1:p.Glu391= XP_006717274.1:p.Glu391Asp
zinc finger protein 462 isoform X1 XP_006717272.1:p.Glu391= XP_006717272.1:p.Glu391Asp
zinc finger protein 462 isoform X1 XP_006717275.1:p.Glu391= XP_006717275.1:p.Glu391Asp
zinc finger protein 462 isoform X1 XP_016870486.1:p.Glu391= XP_016870486.1:p.Glu391Asp
zinc finger protein 462 isoform X1 XP_016870485.1:p.Glu391= XP_016870485.1:p.Glu391Asp
zinc finger protein 462 isoform X6 XP_016870487.1:p.Glu391= XP_016870487.1:p.Glu391Asp
zinc finger protein 462 isoform X2 XP_047279627.1:p.Glu391= XP_047279627.1:p.Glu391Asp
zinc finger protein 462 isoform X3 XP_047279634.1:p.Glu391= XP_047279634.1:p.Glu391Asp
zinc finger protein 462 isoform X1 XP_047279622.1:p.Glu391= XP_047279622.1:p.Glu391Asp
zinc finger protein 462 isoform X3 XP_047279630.1:p.Glu391= XP_047279630.1:p.Glu391Asp
zinc finger protein 462 isoform X1 XP_047279617.1:p.Glu391= XP_047279617.1:p.Glu391Asp
zinc finger protein 462 isoform X1 XP_047279623.1:p.Glu391= XP_047279623.1:p.Glu391Asp
zinc finger protein 462 isoform X1 XP_047279619.1:p.Glu391= XP_047279619.1:p.Glu391Asp
zinc finger protein 462 isoform X1 XP_024303397.1:p.Glu391= XP_024303397.1:p.Glu391Asp
zinc finger protein 462 isoform X1 XP_047279620.1:p.Glu391= XP_047279620.1:p.Glu391Asp
zinc finger protein 462 isoform X3 XP_047279631.1:p.Glu391= XP_047279631.1:p.Glu391Asp
zinc finger protein 462 isoform X1 XP_047279618.1:p.Glu391= XP_047279618.1:p.Glu391Asp
zinc finger protein 462 isoform X3 XP_047279633.1:p.Glu391= XP_047279633.1:p.Glu391Asp
zinc finger protein 462 isoform X2 XP_047279626.1:p.Glu391= XP_047279626.1:p.Glu391Asp
zinc finger protein 462 isoform X3 XP_047279628.1:p.Glu391= XP_047279628.1:p.Glu391Asp
zinc finger protein 462 isoform X1 XP_047279621.1:p.Glu391= XP_047279621.1:p.Glu391Asp
zinc finger protein 462 isoform X3 XP_047279629.1:p.Glu391= XP_047279629.1:p.Glu391Asp
zinc finger protein 462 isoform X2 XP_047279624.1:p.Glu391= XP_047279624.1:p.Glu391Asp
zinc finger protein 462 isoform X2 XP_047279625.1:p.Glu391= XP_047279625.1:p.Glu391Asp
zinc finger protein 462 isoform X3 XP_047279632.1:p.Glu391= XP_047279632.1:p.Glu391Asp
zinc finger protein 462 isoform X4 XP_047279636.1:p.Glu391= XP_047279636.1:p.Glu391Asp
zinc finger protein 462 isoform X6 XP_047279641.1:p.Glu391= XP_047279641.1:p.Glu391Asp
zinc finger protein 462 isoform X4 XP_047279635.1:p.Glu391= XP_047279635.1:p.Glu391Asp
zinc finger protein 462 isoform X5 XP_047279638.1:p.Glu391= XP_047279638.1:p.Glu391Asp
zinc finger protein 462 isoform X4 XP_047279637.1:p.Glu391= XP_047279637.1:p.Glu391Asp
zinc finger protein 462 isoform X5 XP_047279639.1:p.Glu391= XP_047279639.1:p.Glu391Asp
zinc finger protein 462 isoform X6 XP_047279640.1:p.Glu391= XP_047279640.1:p.Glu391Asp
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#.

1 ClinVar submission
No Submitter Submission ID Date (Build)
1 ClinVar RCV001331189.1 Apr 26, 2021 (155)
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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
RCV001331189.1 NC_000009.12:106925084:G:C NC_000009.12:106925084:G:C (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1830136626

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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
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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