Have questions? Visit https://www.reddit.com/r/SNPedia

rs7439366

From SNPedia

Orientationplus
Stabilizedplus
Make rs7439366(C;C)
Make rs7439366(C;T)
Make rs7439366(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position69098620
GeneUGT2B7
is asnp
is mentioned by
dbSNPrs7439366
ebirs7439366
HLIrs7439366
Exacrs7439366
Varsomers7439366
Maprs7439366
PheGenIrs7439366
hapmaprs7439366
1000 genomesrs7439366
hgdprs7439366
ensemblrs7439366
gopubmedrs7439366
geneviewrs7439366
scholarrs7439366
googlers7439366
pharmgkbrs7439366
gwascentralrs7439366
openSNPrs7439366
23andMers7439366
23andMe allrs7439366
SNP Nexus

SNPshotrs7439366
SNPdbers7439366
MSV3drs7439366
GWAS Ctlgrs7439366
GMAF0.4679
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs7439366, also known as Y268H, is a SNP in the UGT2B7 gene encoding the 2B7 UDP-Glucuronosyltransferase, active primarily in the liver. The rs7439366(C) allele encodes a histidine (H) at amino acid 268, and the (T) allele encodes a tyrosine (Y). Most publications refer to the histidine as the wild-type (more common) allele.

[PMID 17664247] In a study of glucuronidation activity of human livers, rs7439366(T;T) individuals had 28% lower activity than rs7439366(C;C) individuals with respect to O-glucuronidation of tamoxifen metabolites 4-OH-tamoxifen and endoxifen. The authors suggest this may help explain interindividual variability (beyond CYP2D6 variation) in tamoxifen metabolism - and therefore the effectiveness of tamoxifen in reducing breast cancer recurrence.



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


[PMID 18622261OA-icon.png] Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene.


[PMID 19779319OA-icon.png] CYP2B6, CYP2A6 and UGT2B7 genetic polymorphisms are predictors of efavirenz mid-dose concentration in HIV-infected patients.


[PMID 20973683] Pharmacogenetic impact of UDP-glucuronosyltransferase metabolic pathway and multidrug resistance-associated protein 2 transport pathway on mycophenolic acid in thoracic transplant recipients: an exploratory study.

[PMID 23726609] Uridine Diphosphate Glucuronosyltransferase 2B7 Variant p.His268Tyr as a Predictor of Kidney Allograft Early Acute Rejection

[PMID 24080498] Pharmacogenetic associations with plasma efavirenz concentrations and clinical correlates in a retrospective cohort of Ghanaian HIV-infected patients [PMID 23130019OA-icon.png] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.