SLC26A11
solute carrier family 26 member 11
Summary
This gene encodes a member of the solute linked carrier 26 family of anion exchangers. Members of this family of proteins are essential for numerous cellular functions including homeostasis and intracellular electrolyte balance. The encoded protein is a sodium independent sulfate transporter that is sensitive to the anion exchanger inhibitor 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs749266673 | 17:78,195,367 | C/T | — | uncertain significance |
| rs745969268 | 17:78,195,442 | C/A | — | uncertain significance |
| rs888376925 | 17:78,195,490 | C/T | — | uncertain significance |
| rs368571336 | 17:78,195,589 | C/T | — | uncertain significance |
| rs1234386670 | 17:78,196,530 | C/G | — | uncertain significance |
| rs2510944115 | 17:78,196,572 | A/C | — | uncertain significance |
| rs376946563 | 17:78,196,580 | G/A | — | uncertain significance |
| rs374746901 | 17:78,196,610 | G/A | — | uncertain significance |
| rs367684406 | 17:78,197,110 | G/A | — | likely benign |
| rs144577972 | 17:78,197,116 | A/G | — | uncertain significance |
| rs138520983 | 17:78,197,118 | C/G | — | uncertain significance |
| rs71389742 | 17:78,199,088 | C/T | regulatory region variant | — |
| rs150742595 | 17:78,199,667 | C/T | — | uncertain significance |
| rs2144883605 | 17:78,199,691 | C/A | — | uncertain significance |
| rs2510949202 | 17:78,199,710 | G/T | — | uncertain significance |
| rs2510951291 | 17:78,201,654 | C/G | — | uncertain significance |
| rs142373038 | 17:78,210,730 | G/A | — | uncertain significance |
| rs2042710720 | 17:78,210,762 | G/T | — | uncertain significance |
| rs141463339 | 17:78,210,777 | G/A | — | uncertain significance |
| rs768603359 | 17:78,210,805 | T/C | — | uncertain significance |
| rs2042713018 | 17:78,210,825 | G/T | — | uncertain significance |
| rs199760680 | 17:78,210,837 | G/A | — | uncertain significance |
| rs1016456801 | 17:78,210,843 | A/G | — | uncertain significance |
| rs746148650 | 17:78,210,865 | C/G | — | uncertain significance |
| rs188773399 | 17:78,211,332 | C/T | — | likely benign |
| rs756212450 | 17:78,211,333 | G/A | — | uncertain significance |
| rs141741804 | 17:78,211,373 | T/C | — | uncertain significance |
| rs142478962 | 17:78,213,894 | C/T | intron variant | — |
| rs116856567 | 17:78,216,923 | C/T | intron variant | — |
| rs143667170 | 17:78,219,012 | G/A | — | uncertain significance |
| rs140877269 | 17:78,219,700 | C/A | intron variant | — |
| rs745943087 | 17:78,219,988 | C/T | — | uncertain significance |
| rs770639202 | 17:78,220,346 | C/A | — | uncertain significance |
| rs140124148 | 17:78,220,382 | G/A | — | likely benign |
| rs143908551 | 17:78,220,385 | A/G | — | uncertain significance |
| rs371059198 | 17:78,220,412 | G/A | — | uncertain significance |
| rs143015734 | 17:78,220,517 | T/C | intron variant | — |
| rs376299076 | 17:78,221,952 | G/A | — | uncertain significance |
| rs762620664 | 17:78,221,958 | T/A | — | uncertain significance |
| rs373010460 | 17:78,222,016 | T/G | — | uncertain significance |
| rs566876893 | 17:78,222,410 | A/G | — | uncertain significance |
| rs2510979998 | 17:78,222,446 | G/A | — | uncertain significance |
| rs377168575 | 17:78,223,027 | G/A | — | uncertain significance |
| rs139242541 | 17:78,223,063 | G/A | — | likely benign |
| rs2510985022 | 17:78,225,143 | G/C | — | uncertain significance |
| rs140131205 | 17:78,225,167 | G/A | missense variant | — |
| rs144250546 | 17:78,225,787 | C/T | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.