The SMN1 gene homepage

General information
Gene symbol SMN1
Gene name survival of motor neuron 1, telomeric
Chromosome 5
Chromosomal band q13.2
Imprinted Unknown
Genomic reference LRG_676
Transcript reference NM_000344.3
Associated with diseases SMA
Citation reference(s) -
Curators (1) Y Yang
Total number of public variants reported 55
Unique public DNA variants reported 38
Individuals with public variants 55
Hidden variants -
Date created December 05, 2014
Date last updated June 30, 2017
Version SMN1:170630

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
External URL LRG_676
HGNC 11117
Entrez Gene 6606
PubMed articles SMN1
OMIM - Gene 600354
OMIM - Diseases SMA (Spinal Muscular Atrophy)
HGMD SMN1
GeneCards SMN1
GeneTests SMN1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000130 5 transcript variant d NM_000344.3 NP_000335.1 55


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