SLC4A10
solute carrier family 4 member 10
Summary
This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
Known Variants92 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1051775487 | 2:162,481,035 | A/G | — | uncertain significance |
| rs2031860777 | 2:162,481,044 | C/T | — | uncertain significance |
| rs16846051 | 2:162,565,325 | T/G | — | benign |
| rs62189006 | 2:162,573,586 | A/G | intron variant | — |
| rs79624795 | 2:162,592,871 | G/T | intron variant | — |
| rs191005728 | 2:162,627,509 | T/C | — | likely benign |
| rs914673973 | 2:162,627,534 | A/C | — | uncertain significance |
| rs2469169036 | 2:162,627,565 | G/A | — | uncertain significance |
| rs180807169 | 2:162,653,686 | G/A | intron variant | — |
| rs770073010 | 2:162,661,010 | G/C | — | uncertain significance |
| rs1038439527 | 2:162,661,019 | G/A | — | uncertain significance |
| rs2469502942 | 2:162,661,039 | A/G | — | uncertain significance |
| rs2469503289 | 2:162,661,066 | G/A | — | uncertain significance |
| rs72879226 | 2:162,687,168 | T/A | intron variant | — |
| rs2469892999 | 2:162,696,328 | C/T | — | uncertain significance |
| rs2469893487 | 2:162,696,356 | A/G | — | uncertain significance |
| rs929159822 | 2:162,696,358 | A/G | — | uncertain significance |
| rs2469893610 | 2:162,696,362 | C/A | — | uncertain significance |
| rs2084543 | 2:162,696,414 | C/T | — | benign |
| rs576078171 | 2:162,703,887 | G/A | — | — |
| rs754880370 | 2:162,711,596 | C/G | — | uncertain significance |
| rs780189691 | 2:162,719,450 | A/G | — | uncertain significance |
| rs747266395 | 2:162,719,452 | G/A | — | uncertain significance |
| rs2060516867 | 2:162,719,464 | C/T | — | uncertain significance |
| rs1223068536 | 2:162,719,473 | C/T | — | pathogenic |
| rs2470108722 | 2:162,719,488 | A/T | — | uncertain significance |
| rs2061179032 | 2:162,728,829 | G/C | — | uncertain significance |
| rs535560207 | 2:162,728,832 | C/T | — | uncertain significance |
| rs752869470 | 2:162,728,895 | G/C | — | likely pathogenic |
| rs181577709 | 2:162,730,442 | A/T | — | likely benign |
| rs1221997073 | 2:162,730,449 | G/A | — | uncertain significance |
| rs2061603947 | 2:162,735,671 | C/G | — | uncertain significance |
| rs1575417532 | 2:162,735,672 | C/T | — | uncertain significance |
| rs763437005 | 2:162,735,723 | G/A | — | uncertain significance |
| rs2470273914 | 2:162,735,744 | G/C | — | pathogenic |
| rs1553605433 | 2:162,735,782 | G/A | — | uncertain significance |
| rs2470314317 | 2:162,738,871 | T/G | — | uncertain significance |
| rs756102275 | 2:162,751,227 | T/G | — | uncertain significance |
| rs1276917826 | 2:162,757,436 | C/A | — | uncertain significance |
| rs575906578 | 2:162,757,481 | C/A | — | uncertain significance |
| rs61748242 | 2:162,760,646 | C/A | — | likely benign |
| rs751709773 | 2:162,760,683 | C/T | — | uncertain significance |
| rs2470633684 | 2:162,761,287 | G/A | — | uncertain significance |
| rs180812489 | 2:162,761,303 | C/T | — | likely benign |
| rs199634510 | 2:162,761,304 | T/G | — | uncertain significance |
| rs2470634489 | 2:162,761,323 | G/T | — | uncertain significance |
| rs2470634767 | 2:162,761,332 | A/G | — | uncertain significance |
| rs2470635695 | 2:162,761,398 | A/T | — | no classification for the single variant |
| rs370148354 | 2:162,762,264 | C/T | — | pathogenic |
| rs61761953 | 2:162,762,296 | T/C | — | likely benign |
| rs773500702 | 2:162,762,396 | T/C | — | uncertain significance |
| rs2467975922 | 2:162,799,326 | T/G | — | uncertain significance |
| rs199725063 | 2:162,799,327 | C/A | — | uncertain significance |
| rs1458349611 | 2:162,799,397 | T/C | — | uncertain significance |
| rs1435419738 | 2:162,799,406 | C/T | — | uncertain significance |
| rs11693702 | 2:162,802,184 | T/C | — | — |
| rs369971543 | 2:162,804,090 | G/T | — | uncertain significance |
| rs768080951 | 2:162,804,103 | G/A | — | uncertain significance |
| rs148092998 | 2:162,804,110 | G/A | — | uncertain significance |
| rs1694065388 | 2:162,804,134 | A/G | — | pathogenic |
| rs753956303 | 2:162,804,163 | A/G | — | uncertain significance |
| rs141829716 | 2:162,804,198 | C/T | — | benign |
| rs2468026919 | 2:162,804,212 | A/G | — | uncertain significance |
| rs780100872 | 2:162,804,215 | C/G | — | uncertain significance |
| rs1694347562 | 2:162,805,661 | C/T | — | pathogenic |
| rs1238896846 | 2:162,805,706 | A/G | — | uncertain significance |
| rs201351567 | 2:162,805,760 | A/G | — | uncertain significance |
| rs1445215746 | 2:162,813,576 | G/A | — | likely pathogenic |
| rs373234260 | 2:162,813,609 | T/C | — | likely benign |
| rs2468112175 | 2:162,813,667 | C/T | — | uncertain significance |
| rs61752557 | 2:162,813,669 | C/T | — | benign |
| rs12466127 | 2:162,815,262 | C/G | — | — |
| rs12472555 | 2:162,816,728 | T/G | intron variant | — |
| rs2468188834 | 2:162,820,643 | A/C | — | pathogenic |
| rs1283303387 | 2:162,820,655 | G/A | — | uncertain significance |
| rs2468189413 | 2:162,820,676 | C/T | — | pathogenic |
| rs1261623503 | 2:162,820,809 | T/C | — | likely benign |
| rs150202067 | 2:162,821,374 | G/A | intron variant | — |
| rs61748243 | 2:162,821,644 | C/T | — | benign |
| rs1254693801 | 2:162,821,645 | G/A | — | uncertain significance |
| rs142943771 | 2:162,830,765 | C/G | — | uncertain significance |
| rs779428686 | 2:162,830,782 | G/A | — | uncertain significance |
| rs201485344 | 2:162,830,822 | T/A | — | uncertain significance |
| rs4340536 | 2:162,831,693 | C/T | — | — |
| rs2468311313 | 2:162,833,278 | C/A | — | uncertain significance |
| rs1699446557 | 2:162,833,292 | A/G | — | uncertain significance |
| rs375704779 | 2:162,833,307 | T/C | — | uncertain significance |
| rs766757048 | 2:162,833,316 | G/A | — | uncertain significance |
| rs748992896 | 2:162,833,345 | C/T | — | likely benign |
| rs2468312940 | 2:162,833,350 | A/T | — | no classification for the single variant |
| rs2468324057 | 2:162,834,232 | C/A | — | uncertain significance |
| rs1699607498 | 2:162,834,237 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.