UGT2B17
UDP glucuronosyltransferase family 2 member B17
Summary
This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs761323185 | 4:69,403,457 | A/T | — | uncertain significance |
| rs757359658 | 4:69,403,527 | C/T | — | uncertain significance |
| rs772905355 | 4:69,403,573 | C/A | — | conflicting classifications of pathogenicity |
| rs746870450 | 4:69,403,574 | C/T | — | likely benign |
| rs72551385 | 4:69,403,588 | G/A | — | benign |
| rs10025771 | 4:69,405,225 | C/T | intron variant | — |
| rs11723091 | 4:69,405,470 | T/C | — | — |
| rs7435827 | 4:69,414,944 | A/G | intron variant | — |
| rs143750013 | 4:69,416,430 | C/G | — | uncertain significance |
| rs201957986 | 4:69,416,439 | A/T | — | uncertain significance |
| rs1460830379 | 4:69,416,470 | G/T | — | uncertain significance |
| rs377204498 | 4:69,416,515 | G/T | — | uncertain significance |
| rs13102139 | 4:69,416,556 | T/C | — | benign |
| rs2476077669 | 4:69,416,558 | C/T | — | uncertain significance |
| rs145097129 | 4:69,416,569 | C/T | — | benign |
| rs1247932217 | 4:69,416,576 | T/C | — | uncertain significance |
| rs28374627 | 4:69,417,570 | A/G | — | benign |
| rs2476079193 | 4:69,417,572 | A/G | — | uncertain significance |
| rs13327941 | 4:69,422,145 | C/A | intron variant | — |
| rs11938019 | 4:69,425,362 | C/T | — | — |
| rs143800988 | 4:69,431,298 | A/G | — | likely benign |
| rs769625320 | 4:69,431,337 | C/A | — | uncertain significance |
| rs762893326 | 4:69,431,357 | C/T | — | uncertain significance |
| rs753978859 | 4:69,431,390 | A/G | — | conflicting classifications of pathogenicity |
| rs6552182 | 4:69,432,948 | T/C | intron variant | — |
| rs7436338 | 4:69,433,279 | A/G | intron variant | — |
| rs143693642 | 4:69,433,548 | G/A | — | conflicting classifications of pathogenicity |
| rs72551386 | 4:69,433,662 | C/T | — | benign |
| rs1578172914 | 4:69,433,665 | T/C | — | uncertain significance |
| rs772924797 | 4:69,433,682 | C/T | — | uncertain significance |
| rs2476101829 | 4:69,433,703 | A/G | — | uncertain significance |
| rs34664906 | 4:69,433,714 | C/T | — | benign |
| rs1578173016 | 4:69,433,744 | G/A | — | likely benign |
| rs143522336 | 4:69,433,763 | T/A | — | benign |
| rs150774462 | 4:69,433,877 | T/G | — | benign |
| rs947351743 | 4:69,433,886 | A/C | — | uncertain significance |
| rs369617587 | 4:69,433,906 | A/G | — | likely benign |
| rs1243649682 | 4:69,433,933 | A/T | — | likely benign |
| rs79242783 | 4:69,433,938 | A/C | — | benign |
| rs72551387 | 4:69,433,950 | C/A | — | benign |
| rs555824070 | 4:69,434,001 | T/G | — | uncertain significance |
| rs771241716 | 4:69,434,024 | G/A | — | uncertain significance |
| rs1278860594 | 4:69,434,070 | C/G | — | uncertain significance |
| rs755960376 | 4:69,434,128 | C/A | — | uncertain significance |
| rs141579507 | 4:69,434,186 | A/T | — | uncertain significance |
| rs760181041 | 4:69,434,201 | A/G | — | uncertain significance |
| rs59678213 | 4:69,434,357 | T/C | — | benign |
| rs62317003 | 4:69,434,400 | C/T | upstream gene variant | — |
| rs6857249 | 4:69,434,902 | G/A | regulatory region variant | — |
| rs6817882 | 4:69,436,235 | C/T | upstream gene variant | — |
| rs62317008 | 4:69,437,730 | G/T | upstream gene variant | — |
| rs56015043 | 4:69,440,672 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.