UGT1A1
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | UDP glucuronosyltransferase 1 family, polypeptide A1 |
| EntrezGene | 54658 |
| PheGenI | 54658 |
| VariationViewer | 54658 |
| dbSNP | 54658 |
| SADR | 54658 |
| HugeNav | 54658 |
| wikipedia | UGT1A1 |
| UGT1A1 | |
| gopubmed | UGT1A1 |
| EVS | UGT1A1 |
| HEFalMp | UGT1A1 |
| 23andMe | UGT1A1 |
| UniProt | P22309 |
| Ensembl | ENSG00000241635 |
| OMIM | 191740 |
| EVS | UGT1A1 |
| # SNPs | 20 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| Rs111033539 | 0 | 234,675,806 | |
| Rs111033540 | 0 | 234,676,979 | |
| Rs111033541 | 0 | 234,668,977 | |
| Rs28934877 | 0 | 234,676,979 | |
| Rs34547608 | 0 | 234,668,828 | |
| Rs34815109 | 234,668,880 | ||
| Rs34983651 | 234,668,879 | ||
| Rs34993780 | 0 | 234,681,059 | |
| Rs35350960 | 0 | 234,669,619 | |
| Rs35600288 | 0 | 234,668,880 | |
| Rs4148323 | 0 | 234,669,144 | |
| Rs4148325 | 234,673,309 | ||
| Rs5839491 | 234,668,885 | ||
| Rs6742078 | 234,672,639 | ||
| Rs72551341 | 0 | 234,669,457 | |
| Rs72551348 | 0 | 234,675,807 | |
| Rs72551349 | 0 | 234,676,519 | |
| Rs72551351 | 0 | 234,676,568 | |
| Rs8175347 | 234,668,881 | ||
| Rs887829 | 234,668,570 |
The UGT1A1 gene is located on chromosome 2, and it encodes a protein that modifies hepatic bilirubin in order to allow it to be excreted. SNPs that reduce the activity of the UGT1A1 gene therefore tend to increase serum bilirubin levels.
One particular variation in the promoter region of this gene, known as the UGT1A1*28 variant, has attracted the majority of attention, including an FDA approved genetic test applicable to potential users of the drugs irinotecan and tranilast. There are 4 SNPs in dbSNP that describe the same exact variation. They are:
- rs34815109, which is the primary entry in SNPedia
- rs34983651
- rs35600288
- rs5839491
