Gene:
SMN1
survival of motor neuron 1, telomeric

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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Overview

Alternate Names:  SMA; SMA@; gemin-1; tudor domain containing 16A
Alternate Symbols:  BCD541; GEMIN1; SMA1; SMA2; SMA3; SMNT; TDRD16A
PharmGKB Accession Id: PA35966

Details

Cytogenetic Location: chr5 : q13.2 - q13.2
GP mRNA Boundary: chr5 : 70220768 - 70248839
GP Gene Boundary: chr5 : 70210768 - 70251839
Strand: plus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.
No related genes are available

Curated Information ?

Publications related to SMN1: 2

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science (New York, N.Y.). 2008. Oprea Gabriela E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. American journal of human genetics. 2006. Cartegni Luca, et al. PubMed

LinkOuts

NCBI Gene:
6606
OMIM:
253300
253400
253550
271150
600354
UCSC Genome Browser:
NM_000344
RefSeq RNA:
NM_000344
NM_022874
RefSeq Protein:
NP_000335
NP_075012
RefSeq DNA:
NG_008691
NT_006713
Ensembl:
ENSG00000172062
ENSG00000205571
GenAtlas:
SMN1
GeneCard:
SMN1
MutDB:
SMN1
HuGE:
SMN1
Comparative Toxicogenomics Database:
6606
HumanCyc Gene:
HS10445
HGNC:
11117

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