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Symbol report for SMN1

Stable symbol

HGNC data for SMN1

Approved symbol
SMN1
Approved name

survival of motor neuron 1, telomeric

Locus type
gene with protein product
HGNC ID
HGNC:11117
Symbol status
Approved
Previous symbols
SMA@
SMA
Previous names
spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease)
Alias symbols
BCD541
SMNT
SMA1
SMA2
SMA3
GEMIN1
TDRD16A
Alias names
gemin-1
tudor domain containing 16A
Chromosomal location
5q13.2
Gene groups
Gene resources for SMN1
Ensembl
ENSG00000172062 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
6606 Curated
UCSC
uc003kak.4
Alliance of Genome Resources
HGNC:11117
Nucleotide resources for SMN1
MANE Select
NM_000344.4
ENST00000380707.9
INSDC
U18423 Curated
ENAGenBankDDBJ
RefSeq
NM_000344 Curated
NCBI sequence viewer
Protein resources for SMN1
UniProt/Swiss-Prot
Q16637
InterProPDBeReactome
AlphaFold
AF-Q16637-F1
Orthologs from selected species for SMN1
Mus musculus
Smn1 MGI:109257 Curated
Rattus norvegicus
Smn1 RGD:620755
Clinical resources for SMN1
OMIM
600354
LRG
LRG_676 Curated
LSDB
SMN1 - Spinal Muscular Atrophy (SMA) Curated
Leiden Muscular Dystrophy pages Curated
ALSOD, the Amyotrophic Lateral Sclerosis Online Genetic Database Curated
GenCC
HGNC:11117
MedlinePlus
Search via SMN1
DECIPHER
Search via SMN1
ClinGen
Search via HGNC:11117
Genetic Testing Registry
Search via NCBI Gene ID 6606
ClinVar
Search via NCBI Gene ID 6606
dbVar
Search via NCBI Gene ID 6606
Orphanet
133452
Other resources for SMN1
AmiGO
Search via Q16637
QuickGO
Search via Q16637
BioGPS
Search via NCBI Gene ID 6606
GeneCards
Search via HGNC:11117
Monarch
Search via HGNC:11117
WikiGenes
Search via NCBI Gene ID 6606
References for SMN1