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

    Gene ID: 117134598, updated on 19-Mar-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21359596..21361299, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (21772328..21774031, complement)
    105.20220307 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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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