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rs1208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
(G;G) 0 common in clinvar
Make rs1208(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position18400806
GeneNAT2
is asnp
is mentioned by
dbSNPrs1208
ebirs1208
HLIrs1208
Exacrs1208
Varsomers1208
Maprs1208
PheGenIrs1208
hapmaprs1208
1000 genomesrs1208
hgdprs1208
ensemblrs1208
gopubmedrs1208
geneviewrs1208
scholarrs1208
googlers1208
pharmgkbrs1208
gwascentralrs1208
openSNPrs1208
23andMers1208
23andMe allrs1208
SNP Nexus

SNPshotrs1208
SNPdbers1208
MSV3drs1208
GWAS Ctlgrs1208
GMAF0.3145
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs1208 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 rs1208(G).

Neighborrs1799930
Distance213
Neighborrs1799931
Distance54



OMIM612182
Desc
Variant0003
Relatedalso
[PMID 21989592OA-icon.png] Interactions of cigarette smoking with NAT2 polymorphisms impact rheumatoid arthritis risk in African Americans


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


[PMID 20459474] Can we predict top-level sports performance in power vs endurance events? A genetic approach


ClinVar
Risk rs1208(A;A)
Alt rs1208(A;A)
Reference rs1208(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.18258316G\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000000760.1,



[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 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.


[PMID 2068113OA-icon.png] Diverse point mutations in the human gene for polymorphic N-acetyltransferase.


[PMID 6721992OA-icon.png] A simple test for acetylator phenotype using caffeine.


[PMID 8807666] NAT2*12A (803A-->G) codes for rapid arylamine n-acetylation in humans.


GET Evidence
NAT2-R268K
aa_change Arg268Lys
aa_change_short R268K
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.580978
summary



[PMID 24939416OA-icon.png] CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients


[PMID 25798622OA-icon.png] Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene