SLC12A4
solute carrier family 12 member 4
Summary
This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquitously. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
Known Variants73 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1109166 | 16:67,977,382 | T/C | — | benign |
| rs760441751 | 16:67,978,769 | G/A | — | uncertain significance |
| rs765667638 | 16:67,978,780 | C/T | — | uncertain significance |
| rs146713633 | 16:67,978,795 | C/T | — | uncertain significance |
| rs374675891 | 16:67,979,106 | C/T | — | uncertain significance |
| rs768693498 | 16:67,979,293 | C/T | — | uncertain significance |
| rs751326359 | 16:67,979,303 | C/A | — | uncertain significance |
| rs756435228 | 16:67,979,399 | C/T | — | uncertain significance |
| rs576077469 | 16:67,979,404 | G/A | — | uncertain significance |
| rs142683701 | 16:67,979,422 | C/T | — | uncertain significance |
| rs139909751 | 16:67,979,431 | G/A | — | uncertain significance |
| rs765630619 | 16:67,979,677 | C/T | — | uncertain significance |
| rs757293362 | 16:67,979,704 | C/T | — | uncertain significance |
| rs768543789 | 16:67,979,716 | G/A | — | uncertain significance |
| rs774340092 | 16:67,979,719 | C/T | — | uncertain significance |
| rs371253580 | 16:67,979,737 | G/A | — | uncertain significance |
| rs917136981 | 16:67,979,741 | G/A | — | uncertain significance |
| rs776058654 | 16:67,979,970 | G/A | — | uncertain significance |
| rs769008809 | 16:67,980,084 | C/T | — | uncertain significance |
| rs1007906756 | 16:67,980,114 | C/T | — | uncertain significance |
| rs754533628 | 16:67,980,144 | A/G | — | uncertain significance |
| rs1227168182 | 16:67,980,186 | G/A | — | uncertain significance |
| rs774238914 | 16:67,980,187 | C/T | — | uncertain significance |
| rs778427270 | 16:67,980,234 | C/A | — | uncertain significance |
| rs781261547 | 16:67,980,238 | C/T | — | uncertain significance |
| rs1262282065 | 16:67,980,241 | T/C | — | uncertain significance |
| rs1048375395 | 16:67,980,369 | C/T | — | likely benign |
| rs762547931 | 16:67,980,379 | C/T | — | uncertain significance |
| rs375867419 | 16:67,980,415 | T/G | — | uncertain significance |
| rs764716105 | 16:67,980,947 | G/A | — | uncertain significance |
| rs571635076 | 16:67,980,965 | C/T | — | uncertain significance |
| rs139995395 | 16:67,981,270 | C/T | missense variant | uncertain significance |
| rs762824072 | 16:67,981,271 | G/A | — | uncertain significance |
| rs376059966 | 16:67,981,279 | G/A | — | uncertain significance |
| rs750154872 | 16:67,981,285 | C/T | — | uncertain significance |
| rs761589838 | 16:67,981,334 | C/T | — | uncertain significance |
| rs776488174 | 16:67,981,606 | C/T | — | uncertain significance |
| rs749137904 | 16:67,983,725 | T/C | — | uncertain significance |
| rs200235448 | 16:67,984,224 | G/A | — | uncertain significance |
| rs145045610 | 16:67,984,268 | C/T | — | uncertain significance |
| rs138890250 | 16:67,984,293 | G/A | — | uncertain significance |
| rs867461314 | 16:67,984,564 | G/A | — | uncertain significance |
| rs564270613 | 16:67,984,581 | A/G | — | uncertain significance |
| rs756214692 | 16:67,984,868 | C/G | — | uncertain significance |
| rs777393577 | 16:67,984,877 | T/C | — | uncertain significance |
| rs538096767 | 16:67,984,943 | G/A | — | uncertain significance |
| rs773501531 | 16:67,985,091 | C/T | — | uncertain significance |
| rs147166243 | 16:67,985,169 | C/T | — | uncertain significance |
| rs370247480 | 16:67,985,193 | C/T | — | likely benign |
| rs957034178 | 16:67,985,806 | T/C | — | uncertain significance |
| rs367973991 | 16:67,986,093 | A/G | — | uncertain significance |
| rs779955208 | 16:67,986,220 | T/C | — | uncertain significance |
| rs1249972734 | 16:67,986,243 | T/A | — | uncertain significance |
| rs376136485 | 16:67,986,276 | G/A | — | uncertain significance |
| rs775700500 | 16:67,986,280 | C/T | — | uncertain significance |
| rs751840065 | 16:67,986,291 | G/A | — | likely benign |
| rs1013804238 | 16:67,986,318 | G/A | — | uncertain significance |
| rs9934405 | 16:67,989,976 | C/A | intron variant | — |
| rs996383529 | 16:67,991,657 | C/T | — | uncertain significance |
| rs370981199 | 16:67,991,821 | C/T | — | uncertain significance |
| rs1335005287 | 16:67,991,827 | G/A | — | uncertain significance |
| rs762458848 | 16:67,991,897 | A/T | — | uncertain significance |
| rs761257067 | 16:67,995,480 | C/T | — | likely benign |
| rs779668711 | 16:67,995,495 | G/A | — | uncertain significance |
| rs372943612 | 16:67,995,497 | G/C | — | uncertain significance |
| rs28655136 | 16:68,001,447 | T/C | regulatory region variant | — |
| rs369278893 | 16:68,002,373 | G/A | — | uncertain significance |
| rs147343289 | 16:68,002,391 | C/A | — | uncertain significance |
| rs1299300810 | 16:68,002,400 | G/A | — | uncertain significance |
| rs755485149 | 16:68,002,426 | C/G | — | likely benign |
| rs774214088 | 16:68,002,478 | C/A | — | uncertain significance |
| rs1193243618 | 16:68,002,487 | T/A | — | uncertain significance |
| rs563719406 | 16:68,002,521 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.