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rs1799931

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1799931(A;A)
Make rs1799931(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position18400860
GeneNAT2
is asnp
is mentioned by
dbSNPrs1799931
ebirs1799931
HLIrs1799931
Exacrs1799931
Varsomers1799931
Maprs1799931
PheGenIrs1799931
hapmaprs1799931
1000 genomesrs1799931
hgdprs1799931
ensemblrs1799931
gopubmedrs1799931
geneviewrs1799931
scholarrs1799931
googlers1799931
pharmgkbrs1799931
gwascentralrs1799931
openSNPrs1799931
23andMers1799931
23andMe allrs1799931
SNP Nexus

SNPshotrs1799931
SNPdbers1799931
MSV3drs1799931
GWAS Ctlgrs1799931
GMAF0.07117
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs1799931 is a SNP in the NAT2 gene, potentially encoding a variant detoxifying protein known as an N-acetyltransferase, but which NAT2 variant depends on which other NAT2 SNPs were also inherited. See the discussion of the NAT2 gene for a more complete explanation.

The risk allele for this SNP is rs1799931(A).

Neighborrs1208
Distance54



OMIM612182
Desc
Variant0004
Relatedalso
[PMID 22092036OA-icon.png] Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes


ClinVar
Risk rs1799931(A;A)
Alt rs1799931(A;A)
Reference rs1799931(G;G)
Significance Drug-response
Disease Slow acetylator due to N-acetyltransferase enzyme variant
Variation info
Gene NAT2
CLNDBN Slow acetylator due to N-acetyltransferase enzyme variant
Reversed 0
HGVS NC_000008.10:g.18258370G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000761.1,



[PMID 14724163OA-icon.png] Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases.


[PMID 16112301OA-icon.png] NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses.


[PMID 16416399OA-icon.png] Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.


[PMID 16847422OA-icon.png] Genetic variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2) and risk of non-Hodgkin lymphoma.


[PMID 17335581OA-icon.png] Association of the diplotype configuration at the N-acetyltransferase 2 gene with adverse events with co-trimoxazole in Japanese patients with systemic lupus erythematosus.


[PMID 18268115OA-icon.png] Meat intake, heterocyclic amine exposure, and metabolizing enzyme polymorphisms in relation to colorectal polyp risk.


[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.


[PMID 18680467OA-icon.png] Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2.


[PMID 18768514OA-icon.png] Talc use, variants of the GSTM1, GSTT1, and NAT2 genes, and risk of epithelial ovarian cancer.


[PMID 18773084OA-icon.png] Multiple advantageous amino acid variants in the NAT2 gene in human populations.


[PMID 18990750OA-icon.png] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.


[PMID 19766908] Association of NAT2 gene polymorphisms with susceptibility to esophageal and gastric cancers in the Kashmir Valley.


[PMID 20043821OA-icon.png] Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data.


[PMID 22137356] An unlikely role for the NAT2 genotypes and haplotypes in the oral cancer of south Indians.


[PMID 1968463] Cloning and expression of cDNAs for polymorphic and monomorphic arylamine N-acetyltransferases from human liver.


[PMID 23072573OA-icon.png] Multiplex Allele-Specific Amplification from Whole Blood for Detecting Multiple Polymorphisms Simultaneously


GET Evidence
NAT2-G286E
aa_change Gly286Glu
aa_change_short G286E
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0231838
summary This variant represents the NAT2*7B haplotytype.



[PMID 23175176OA-icon.png] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.


[PMID 25017831] N-acetyltransferase and cytochrome P450 2E1 gene polymorphisms and susceptibility to antituberculosis drug hepatotoxicity in an Indian population


[PMID 25081676] N-Acetyltransferase 2 Gene Polymorphisms are Associated with Susceptibility to Cancer: a Meta-analysis


[PMID 26409796] N-acetyltransferase 1 and 2 polymorphisms and risk of diabetes mellitus type 2 in a Saudi population


[PMID 26445549OA-icon.png] Associations of polymorphisms in NAT2 gene with risk and metastasis of osteosarcoma in young Chinese population