SLC4A8
solute carrier family 4 member 8
Summary
The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs907348 | 12:51,788,340 | T/C | regulatory region variant | — |
| rs10876171 | 12:51,793,821 | G/A | regulatory region variant | — |
| rs4761963 | 12:51,807,382 | G/A | intron variant | — |
| rs7954659 | 12:51,808,781 | C/T | intron variant | — |
| rs368732611 | 12:51,810,191 | A/G | — | — |
| rs555252532 | 12:51,818,797 | C/T | — | uncertain significance |
| rs7956306 | 12:51,834,008 | G/A | intron variant | — |
| rs150330993 | 12:51,847,430 | T/C | — | uncertain significance |
| rs1470948146 | 12:51,847,465 | A/G | — | uncertain significance |
| rs756642265 | 12:51,851,267 | G/T | — | uncertain significance |
| rs2498941576 | 12:51,852,348 | A/T | — | uncertain significance |
| rs1281043262 | 12:51,852,351 | G/A | — | uncertain significance |
| rs6580836 | 12:51,852,761 | G/A | intron variant | — |
| rs770189059 | 12:51,853,801 | G/C | — | uncertain significance |
| rs200938638 | 12:51,856,173 | C/T | — | uncertain significance |
| rs765315391 | 12:51,857,497 | C/T | — | uncertain significance |
| rs2138293615 | 12:51,863,508 | G/T | — | uncertain significance |
| rs1296655278 | 12:51,863,556 | C/T | — | uncertain significance |
| rs200633626 | 12:51,863,568 | G/A | — | uncertain significance |
| rs1950693575 | 12:51,865,163 | C/T | — | uncertain significance |
| rs1382053831 | 12:51,865,315 | T/C | — | uncertain significance |
| rs199981470 | 12:51,868,163 | A/T | — | uncertain significance |
| rs200725738 | 12:51,868,184 | C/A | — | uncertain significance |
| rs1950819456 | 12:51,868,838 | G/A | — | uncertain significance |
| rs749911186 | 12:51,868,959 | C/T | — | uncertain significance |
| rs776058582 | 12:51,868,974 | G/A | — | uncertain significance |
| rs147845115 | 12:51,878,760 | G/A | intron variant | — |
| rs145835611 | 12:51,879,602 | T/C | — | uncertain significance |
| rs147780733 | 12:51,879,639 | G/T | — | uncertain significance |
| rs201905031 | 12:51,882,510 | A/G | — | uncertain significance |
| rs1045782037 | 12:51,882,612 | G/A | — | uncertain significance |
| rs10783447 | 12:51,884,821 | G/C | — | — |
| rs2089439 | 12:51,889,326 | C/T | — | — |
| rs2499097390 | 12:51,890,900 | G/A | — | uncertain significance |
| rs530716814 | 12:51,897,814 | A/G | — | uncertain significance |
| rs769118043 | 12:51,897,835 | T/C | — | uncertain significance |
| rs6580839 | 12:51,898,706 | A/G | intron variant | — |
| rs12296477 | 12:51,903,860 | C/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.