SLCO1A2
solute carrier organic anion transporter family member 1A2
Summary
This gene encodes a sodium-independent transporter which mediates cellular uptake of organic ions in the liver. Its substrates include bile acids, bromosulphophthalein, and some steroidal compounds. The protein is a member of the SLC21A family of solute carriers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2008]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143461412 | 12:21,418,842 | C/G | 3 prime UTR variant | — |
| rs777689524 | 12:21,422,486 | A/G | — | uncertain significance |
| rs777970806 | 12:21,422,616 | G/T | — | uncertain significance |
| rs747899567 | 12:21,422,667 | C/T | — | uncertain significance |
| rs762098103 | 12:21,427,472 | C/G | — | uncertain significance |
| rs141627379 | 12:21,427,500 | A/G | — | uncertain significance |
| rs755244779 | 12:21,427,508 | G/A | — | uncertain significance |
| rs1360657527 | 12:21,427,518 | C/T | — | uncertain significance |
| rs149548406 | 12:21,445,260 | T/C | — | uncertain significance |
| rs751335373 | 12:21,446,880 | A/G | — | uncertain significance |
| rs561038215 | 12:21,446,922 | C/T | — | uncertain significance |
| rs4149000 | 12:21,447,997 | C/T | intron variant | — |
| rs777130568 | 12:21,448,547 | T/G | — | uncertain significance |
| rs376308743 | 12:21,448,574 | A/G | — | uncertain significance |
| rs894763906 | 12:21,448,640 | C/T | — | uncertain significance |
| rs1191154887 | 12:21,448,709 | G/T | — | uncertain significance |
| rs16923647 | 12:21,451,395 | C/T | intron variant | — |
| rs376480681 | 12:21,453,368 | A/C | — | uncertain significance |
| rs11568554 | 12:21,453,424 | G/A | — | benign |
| rs371960486 | 12:21,453,473 | C/T | — | uncertain significance |
| rs2499478885 | 12:21,454,110 | T/C | — | uncertain significance |
| rs377561780 | 12:21,454,165 | C/T | — | uncertain significance |
| rs2499553855 | 12:21,457,390 | G/A | — | uncertain significance |
| rs750165758 | 12:21,457,391 | C/G | — | uncertain significance |
| rs11568563 | 12:21,457,434 | T/G | missense variant | — |
| rs11568564 | 12:21,457,448 | G/A | missense variant | — |
| rs144919040 | 12:21,457,468 | A/G | — | uncertain significance |
| rs745627320 | 12:21,459,852 | C/T | — | uncertain significance |
| rs11568567 | 12:21,459,876 | T/A | — | benign |
| rs145667214 | 12:21,465,080 | A/G | intron variant | — |
| rs7966334 | 12:21,467,215 | C/T | — | — |
| rs1327810100 | 12:21,471,772 | C/T | — | uncertain significance |
| rs2499859095 | 12:21,471,778 | A/G | — | uncertain significance |
| rs151243864 | 12:21,471,832 | G/A | — | uncertain significance |
| rs189867293 | 12:21,537,341 | G/A | downstream gene variant | — |
| rs186673859 | 12:21,548,223 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.