rs7439366
| Orientation | plus |
| Stabilized | plus |
| Make rs7439366(C;C) |
| Make rs7439366(C;T) |
| Make rs7439366(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 69098620 |
| Gene | UGT2B7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7439366 |
| dbSNP (classic) | rs7439366 |
| ClinGen | rs7439366 |
| ebi | rs7439366 |
| HLI | rs7439366 |
| Exac | rs7439366 |
| Gnomad | rs7439366 |
| Varsome | rs7439366 |
| LitVar | rs7439366 |
| Map | rs7439366 |
| PheGenI | rs7439366 |
| Biobank | rs7439366 |
| 1000 genomes | rs7439366 |
| hgdp | rs7439366 |
| ensembl | rs7439366 |
| geneview | rs7439366 |
| scholar | rs7439366 |
| rs7439366 | |
| pharmgkb | rs7439366 |
| gwascentral | rs7439366 |
| openSNP | rs7439366 |
| 23andMe | rs7439366 |
| SNPshot | rs7439366 |
| SNPdbe | rs7439366 |
| MSV3d | rs7439366 |
| GWAS Ctlg | rs7439366 |
| GMAF | 0.4679 |
| Max Magnitude | 0 |
| ? | (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 18547414
] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18622261] Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene.
[PMID 19779319] 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 23130019] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.
[PMID 31874497] [Effect of opioid-related gene polymorphisms on patients with high-dose opioid-tolerant cancer pain].
[PMID 33595913] Association between sex hormones regulation-related SNP rs12233719 and lung cancer risk among never-smoking Chinese women.
