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SMN-AS1 survival motor neuron- antisense 1 [ Homo sapiens (human) ]

Gene ID: 130453475, updated on 8-Nov-2023

Summary

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Gene symbol
SMN-AS1
Gene description
survival motor neuron- antisense 1
See related
Ensembl:ENSG00000285204
Gene type
ncRNA
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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See SMN-AS1 in Genome Data Viewer
Location:
5q13.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (70931244..70932840, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (71388028..71389624, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene GUSB pseudogene 16 Neighboring gene cadherin 12 pseudogene 1 Neighboring gene mitochondrial import receptor subunit TOM5 homolog Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70220520-70221452 Neighboring gene small EDRK-rich factor 1A Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70227603-70228594 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:70228664-70229392 Neighboring gene survival of motor neuron 1, telomeric Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:70260097-70260788 Neighboring gene uncharacterized LOC112267942 Neighboring gene NLR family apoptosis inhibitory protein Neighboring gene NAIP promoter region Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:70362331-70362930 Neighboring gene general transcription factor IIH subunit 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy. d'Ydewalle C, et al. Neuron, 2017 Jan 4. PMID 28017471, Free PMC Article
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

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

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_185500.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC139834
    Related
    ENST00000646820.1

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    70931244..70932840 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003315917.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    477955..479551
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_187651.1 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    479670..481266 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    71388028..71389624 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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Molecular Biology Databases