SULT2A1
sulfotransferase family 2A member 1
Summary
This gene encodes a member of the sulfotransferase family. Sulfotransferases aid in the metabolism of drugs and endogenous compounds by converting these substances into more hydrophilic water-soluble sulfate conjugates that can be easily excreted. This protein catalyzes the sulfation of steroids and bile acids in the liver and adrenal glands, and may have a role in the inherited adrenal androgen excess in women with polycystic ovary syndrome. [provided by RefSeq, Mar 2010]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs112285002 | 19:48,374,320 | C/T | 3 prime UTR variant | — |
| rs296365 | 19:48,374,551 | C/G | 3 prime UTR variant | — |
| rs296363 | 19:48,376,941 | C/G | intron variant | — |
| rs212100 | 19:48,376,995 | T/A | — | — |
| rs11569680 | 19:48,377,980 | T/C | — | likely benign |
| rs2431830 | 19:48,380,206 | C/T | intron variant | — |
| rs2547239 | 19:48,382,157 | T/G | — | — |
| rs147230706 | 19:48,382,331 | T/C | — | likely benign |
| rs2547235 | 19:48,383,147 | T/A | — | — |
| rs62129968 | 19:48,383,542 | C/A | intron variant | — |
| rs2547234 | 19:48,383,906 | T/A | — | — |
| rs2547233 | 19:48,384,026 | A/T | — | — |
| rs10425963 | 19:48,384,626 | G/A | intron variant | — |
| rs10425975 | 19:48,384,635 | G/C | — | — |
| rs10425629 | 19:48,384,648 | C/T | intron variant | — |
| rs2547231 | 19:48,385,057 | C/T | — | — |
| rs139437036 | 19:48,385,359 | A/C | — | uncertain significance |
| rs377270215 | 19:48,386,847 | C/A | — | uncertain significance |
| rs751662500 | 19:48,386,898 | C/T | — | uncertain significance |
| rs11569682 | 19:48,386,921 | T/G | — | benign |
| rs763687131 | 19:48,386,958 | C/T | — | uncertain significance |
| rs11569681 | 19:48,386,992 | C/G | — | benign |
| rs144058411 | 19:48,387,031 | A/C | — | uncertain significance |
| rs55662444 | 19:48,388,635 | A/G | — | — |
| rs296360 | 19:48,388,658 | T/C | intron variant | — |
| rs212099 | 19:48,389,002 | T/A | intron variant | — |
| rs296361 | 19:48,389,363 | G/A | intron variant | — |
| rs748882283 | 19:48,389,465 | C/T | — | uncertain significance |
| rs112433193 | 19:48,389,631 | C/G | regulatory region variant | — |
| rs2972623 | 19:48,391,292 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.