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FAM246B family with sequence similarity 246 member B [ Homo sapiens (human) ]

Gene ID: 117134597, updated on 10-Oct-2023

Summary

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Official Symbol
FAM246Bprovided by HGNC
Official Full Name
family with sequence similarity 246 member Bprovided by HGNC
Primary source
HGNC:HGNC:54843
See related
Ensembl:ENSG00000286175 AllianceGenome:HGNC:54843
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
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Genomic context

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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 (18633984..18635687)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20483851..20484549)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RN7SK pseudogene 131 Neighboring gene MPRA-validated peak4455 silencer Neighboring gene RIMS binding protein 3 Neighboring gene sushi domain containing 2 pseudogene 2 Neighboring gene CA15 pseudogene 2 Neighboring gene protein phosphatase 1 regulatory subunit 26 pseudogene 2

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 protein information

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Preferred Names
protein FAM246B

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_001396026.1 → NP_001382955.1  protein FAM246B

    Status: VALIDATED

    Source sequence(s)
    AC023490
    Consensus CDS
    CCDS93113.1
    UniProtKB/Swiss-Prot
    A0A494C0N9
    Related
    ENSP00000498626.1, ENST00000652395.1

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
    18633984..18635687
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047441115.1 → XP_047297071.1  protein FAM246B isoform X1

    UniProtKB/Swiss-Prot
    A0A494C0N9

RNA

  1. XR_007067956.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_075639.1: Suppressed sequence

    Description
    NG_075639.1: 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
A0A494C0N9.1 GenPept UniProtKB/Swiss-Prot:A0A494C0N9

Gene LinkOut

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