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

Gene ID: 101929680, updated on 23-Nov-2021

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
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (166081531..166301784)
105.20201022 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 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 sodium voltage-gated channel alpha subunit 7 Neighboring gene uncharacterized LOC107985958

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Associated conditions

Description Tests
Common variants associated with general and MMR vaccine-related febrile seizures.
GeneReviews: Not available
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.
GeneReviews: Not available
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
GeneReviews: Not available
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
GeneReviews: Not available

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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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