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 NG_008691.1
Transcript reference NM_000344.3, NM_022874.2, XM_005248575.1, XM_005248576.1, XM_005248577.1
Associated with diseases SMA-1, SMA-2, SMA-3, SMA-4
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants -
Date created January 21, 2014
Date last updated September 11, 2014
Version SMN1:140911

Links to other resources
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:11117
Entrez Gene 6606
PubMed articles SMN1
OMIM - Gene 600354
OMIM - Diseases SMA-1 (atrophy, muscular, spinal, type 1 (Werdnig-Hoffman disease, severe infantile acute))
SMA-2 (atrophy, muscular, spinal, type II (infantile, chronic))
SMA-3 (atrophy, muscular, spinal, type III (juvenile, Wohlfart-Kugelberg-Welander disease))
SMA-4 (atrophy, muscular, spinal, type IV (adult))
HGMD SMN1
GeneCards SMN1
GeneTests SMN1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009289 5 transcript variant d NM_000344.3 NP_000335.1 -
00024377 5 Manually created transcript NM_022874.2 - -
00044934 5 transcript variant X3 XM_005248577.1 XP_005248634.1 -
00044935 5 transcript variant X1 XM_005248575.1 XP_005248632.1 -
00044936 5 transcript variant X2 XM_005248576.1 XP_005248633.1 -


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