SLC22A1
solute carrier family 22 member 1
Summary
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. Two transcript variants encoding two different isoforms have been found for this gene, but only the longer variant encodes a functional transporter. [provided by RefSeq, Jul 2008]
Known Variants59 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs749926302 | 6:160,542,999 | T/C | — | uncertain significance |
| rs1440356481 | 6:160,543,041 | T/C | — | uncertain significance |
| rs753772607 | 6:160,543,085 | G/A | — | uncertain significance |
| rs778919765 | 6:160,543,092 | T/G | — | uncertain significance |
| rs1779948577 | 6:160,543,130 | G/T | — | uncertain significance |
| rs12208357 | 6:160,543,148 | C/T | missense variant | — |
| rs745944087 | 6:160,543,182 | A/G | — | uncertain significance |
| rs200409072 | 6:160,543,203 | C/T | — | uncertain significance |
| rs760315741 | 6:160,543,205 | G/A | — | uncertain significance |
| rs146272144 | 6:160,543,308 | G/A | — | uncertain significance |
| rs200865946 | 6:160,543,330 | C/A | stop gained | — |
| rs750183710 | 6:160,543,358 | G/A | — | uncertain significance |
| rs150664378 | 6:160,548,255 | C/G | intron variant | — |
| rs1780355100 | 6:160,551,177 | T/G | — | uncertain significance |
| rs201942835 | 6:160,551,217 | G/T | — | benign |
| rs1045389610 | 6:160,551,218 | G/A | — | uncertain significance |
| rs905547029 | 6:160,551,227 | A/G | — | uncertain significance |
| rs762946206 | 6:160,551,229 | T/C | — | uncertain significance |
| rs189318258 | 6:160,551,880 | C/T | intron variant | — |
| rs768905186 | 6:160,553,271 | C/T | — | uncertain significance |
| rs144273196 | 6:160,553,272 | G/T | — | uncertain significance |
| rs1780476293 | 6:160,553,287 | T/C | — | uncertain significance |
| rs34134157 | 6:160,553,306 | C/T | — | benign |
| rs34104736 | 6:160,553,314 | C/T | missense variant | — |
| rs374468971 | 6:160,553,347 | T/G | — | uncertain significance |
| rs756046120 | 6:160,553,386 | G/C | — | uncertain significance |
| rs36103319 | 6:160,553,407 | G/T | missense variant | — |
| rs777775395 | 6:160,555,022 | C/T | — | uncertain significance |
| rs3798169 | 6:160,556,197 | T/G | intron variant | — |
| rs774828243 | 6:160,557,261 | G/A | — | likely benign |
| rs181861830 | 6:160,557,320 | A/G | — | uncertain significance |
| rs374278614 | 6:160,557,603 | G/A | — | uncertain significance |
| rs2282143 | 6:160,557,643 | C/G | missense variant | — |
| rs112476023 | 6:160,560,155 | G/T | regulatory region variant | — |
| rs763656391 | 6:160,560,696 | C/G | — | uncertain significance |
| rs767493381 | 6:160,560,726 | T/C | — | uncertain significance |
| rs755995720 | 6:160,560,731 | G/A | — | uncertain significance |
| rs755237332 | 6:160,560,740 | G/A | — | uncertain significance |
| rs554127747 | 6:160,560,746 | C/T | — | uncertain significance |
| rs754755645 | 6:160,560,810 | C/T | — | uncertain significance |
| rs777687557 | 6:160,560,819 | G/A | — | uncertain significance |
| rs34130495 | 6:160,560,824 | G/A | missense variant | — |
| rs628031 | 6:160,560,845 | A/G | missense variant | benign |
| rs1443443750 | 6:160,560,856 | G/C | — | uncertain significance |
| rs35167514 | 6:160,560,881 | — | — | — |
| rs34305973 | 6:160,560,882 | — | — | — |
| rs35191146 | 6:160,560,883 | — | — | — |
| rs780250888 | 6:160,560,888 | T/C | — | uncertain significance |
| rs662138 | 6:160,564,476 | C/G | intron variant | — |
| rs561378730 | 6:160,564,612 | G/A | — | uncertain significance |
| rs35956182 | 6:160,564,616 | A/G | — | benign |
| rs62440900 | 6:160,566,092 | T/C | intron variant | — |
| rs622342 | 6:160,572,866 | C/G | — | — |
| rs536418062 | 6:160,575,836 | C/T | — | benign |
| rs34059508 | 6:160,575,837 | G/A | missense variant | — |
| rs1451355410 | 6:160,575,856 | C/T | — | uncertain significance |
| rs1564348 | 6:160,578,860 | T/C | intron variant | — |
| rs16891138 | 6:160,579,596 | A/C | — | benign |
| rs1305281290 | 6:160,579,610 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.