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    SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 [ Homo sapiens (human) ]

    Gene ID: 101929680, updated on 21-Sep-2024

    Summary

    Official Symbol
    SCN1A-AS1provided by HGNC
    Official Full Name
    SCN1A and SCN9A antisense RNA 1provided by HGNC
    Primary source
    HGNC:HGNC:54069
    See related
    Ensembl:ENSG00000236107 AllianceGenome:HGNC:54069
    Gene type
    ncRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCN1ANAT; SCN1A-NAT
    Expression
    Broad expression in testis (RPKM 2.4), spleen (RPKM 1.4) and 23 other tissues See more
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    Genomic context

    See SCN1A-AS1 in Genome Data Viewer
    Location:
    2q24.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (166081531..166301784)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (166539131..166759239)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (166938041..167158294)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tetratricopeptide repeat domain 21B Neighboring gene TTC21B antisense RNA 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:166810301-166811050 Neighboring gene uncharacterized LOC102724058 Neighboring gene sodium voltage-gated channel alpha subunit 1 Neighboring gene RN7SK pseudogene 152 Neighboring gene sodium voltage-gated channel alpha subunit 9 Neighboring gene small nucleolar RNA U13 Neighboring gene sodium voltage-gated channel alpha subunit 7

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Phenotypes

    EBI GWAS Catalog

    Description
    Common variants associated with general and MMR vaccine-related febrile seizures.
    EBI GWAS Catalog
    Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
    EBI GWAS Catalog
    Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
    EBI GWAS Catalog
    Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
    EBI GWAS Catalog

    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.

    RNA

    1. NR_110260.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC108146, BC051759
      Related
      ENST00000447809.2

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      166081531..166301784
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      166539131..166759239
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)