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rs1801279

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1801279(A;A)
Make rs1801279(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position18400194
GeneNAT2
is asnp
is mentioned by
dbSNPrs1801279
ClinGenrs1801279
ebirs1801279
HLIrs1801279
Exacrs1801279
Varsomers1801279
Maprs1801279
PheGenIrs1801279
hapmaprs1801279
1000 genomesrs1801279
hgdprs1801279
ensemblrs1801279
gopubmedrs1801279
geneviewrs1801279
scholarrs1801279
googlers1801279
pharmgkbrs1801279
gwascentralrs1801279
openSNPrs1801279
23andMers1801279
23andMe allrs1801279
SNP Nexus

SNPshotrs1801279
SNPdbers1801279
MSV3drs1801279
GWAS Ctlgrs1801279
GMAF0.02204
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs1801279 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 rs1801279(A).

Neighborrs1041983
Distance91
[PMID 22092036OA-icon.png] Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes


[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 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 18664443] Unraveling ambiguous NAT2 genotyping data.


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


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


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


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


GET Evidence
NAT2-R64Q
aa_change Arg64Gln
aa_change_short R64Q
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0279792
summary



ClinVar
Risk rs1801279(A;A)
Alt rs1801279(A;A)
Reference Rs1801279(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.18257704G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000762.1,



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