Gene:
SCN9A
sodium channel, voltage-gated, type IX, alpha subunit

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

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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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all SCN9A variant annotations

Variant?
(142)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs12478318 103958A>C, 167133540T>G, 17342958T>G, 2794A>C, Met932Leu
T > G
Missense
Met932Leu
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 142

Overview

Alternate Names:  None
Alternate Symbols:  ETHA; NE-NA; NENA; Nav1.7; PN1
PharmGKB Accession Id: PA35010

Details

Cytogenetic Location: chr2 : q24.3 - q24.3
GP mRNA Boundary: chr2 : 167051695 - 167232497
GP Gene Boundary: chr2 : 167048695 - 167242497
Strand: minus
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 SCN9A: 1

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Two novel SCN9A gene heterozygous mutations may cause partial deletion of pain perception. Pain medicine (Malden, Mass.). 2011. Yuan Ruimei, et al. PubMed

LinkOuts

Entrez Gene:
6335
OMIM:
133020
167400
243000
603415
604403
UCSC Genome Browser:
NM_002977
RefSeq RNA:
NM_002977
RefSeq Protein:
NP_002968
RefSeq DNA:
AC_000045
AC_000134
NC_000002
NG_012798
NT_005403
NW_001838860
NW_921585
UniProtKB:
SCN9A_HUMAN (Q15858)
Ensembl:
ENSG00000169432
GenAtlas:
SCN9A
GeneCard:
SCN9A
MutDB:
SCN9A
ALFRED:
LO067368E
HuGE:
SCN9A
Comparative Toxicogenomics Database:
6335
ModBase:
Q15858
HumanCyc Gene:
HS09948
IUPHAR Receptor:
Nav1.7 (584)
HGNC:
10597

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