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FAM246A family with sequence similarity 246 member A [ Homo sapiens (human) ]

Gene ID: 117134598, updated on 12-Sep-2024

Summary

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Official Symbol
FAM246Aprovided by HGNC
Official Full Name
family with sequence similarity 246 member Aprovided by HGNC
Primary source
HGNC:HGNC:54844
See related
Ensembl:ENSG00000286102 AllianceGenome:HGNC:54844
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Orthologs
all
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Genomic context

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See FAM246A in Genome Data Viewer
Location:
22q11.21
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21359596..21361299, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21772328..21774031, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21714890..21715588, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 26 pseudogene 5 Neighboring gene long intergenic non-protein coding RNA 1651 Neighboring gene CA15 pseudogene 3 Neighboring gene sushi domain containing 2 pseudogene 1 Neighboring gene RIMS binding protein 3B Neighboring gene RN7SK pseudogene 63

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Homology

General protein information

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Preferred Names
protein FAM246A

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001396025.1 → NP_001382954.1  protein FAM246A

    Status: VALIDATED

    Source sequence(s)
    AP000552
    Consensus CDS
    CCDS93124.1
    UniProtKB/Swiss-Prot
    A0A494C0Y3
    Related
    ENSP00000498770.1, ENST00000652479.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    21359596..21361299 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441116.1 → XP_047297072.1  protein FAM246A isoform X1

    UniProtKB/Swiss-Prot
    A0A494C0Y3

RNA

  1. XR_007067957.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    21772328..21774031 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054325062.1 → XP_054181037.1  protein FAM246A isoform X1

    UniProtKB/Swiss-Prot
    A0A494C0Y3

RNA

  1. XR_008485365.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_075638.1: Suppressed sequence

    Description
    NG_075638.1: This RefSeq was removed because it is now thought that this gene does encode a protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A494C0Y3.1 GenPept UniProtKB/Swiss-Prot:A0A494C0Y3

Gene LinkOut

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