SLC9A3
solute carrier family 9 member A3
Summary
The protein encoded by this gene is an epithelial brush border Na/H exchanger that uses an inward sodium ion gradient to expel acids from the cell. Defects in this gene are a cause of congenital secretory sodium diarrhea. Pseudogenes of this gene exist on chromosomes 10 and 22. [provided by RefSeq, Mar 2016]
Known Variants571 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs866897416 | 5:473,259 | C/A | — | likely benign |
| rs540024518 | 5:473,406 | C/G | — | likely benign |
| rs1245240527 | 5:473,497 | C/G | — | uncertain significance |
| rs1421949051 | 5:473,502 | G/A | — | likely benign |
| rs1410778742 | 5:473,504 | G/A | — | likely benign |
| rs1436675643 | 5:473,509 | G/A | — | likely benign |
| rs765137885 | 5:473,512 | G/A | — | likely benign |
| rs750226489 | 5:473,515 | G/A | — | likely benign |
| rs182755932 | 5:474,977 | C/T | — | likely benign |
| rs750398092 | 5:474,982 | G/A | — | likely benign |
| rs762742994 | 5:474,983 | G/A | — | likely benign |
| rs2126602165 | 5:474,984 | C/T | — | likely benign |
| rs766199537 | 5:474,987 | G/A | — | likely benign |
| rs754007631 | 5:475,008 | A/G | — | uncertain significance |
| rs1165688490 | 5:475,012 | G/C | — | likely benign |
| rs1388590326 | 5:475,015 | G/C | — | likely benign |
| rs1738614553 | 5:475,019 | G/T | — | uncertain significance |
| rs577890614 | 5:475,029 | G/T | — | uncertain significance |
| rs1738615897 | 5:475,030 | C/T | — | likely benign |
| rs780527679 | 5:475,035 | C/T | — | uncertain significance |
| rs2477530919 | 5:475,039 | G/C | — | likely benign |
| rs1255703012 | 5:475,060 | G/A | — | likely benign |
| rs1411391594 | 5:475,072 | C/G | — | uncertain significance |
| rs201053062 | 5:475,076 | C/T | — | uncertain significance |
| rs1377619205 | 5:475,089 | A/T | — | uncertain significance |
| rs1220909791 | 5:475,096 | C/T | — | likely benign |
| rs774250000 | 5:475,098 | G/A | — | likely benign |
| rs2247114 | 5:475,104 | G/A | — | benign |
| rs1413645692 | 5:475,106 | A/C | — | uncertain significance |
| rs2126602468 | 5:475,109 | G/C | — | uncertain significance |
| rs757493997 | 5:475,113 | C/T | — | uncertain significance |
| rs572360348 | 5:475,117 | A/G | — | likely benign |
| rs372233912 | 5:475,126 | A/T | — | benign |
| rs769325808 | 5:475,138 | G/A | — | likely benign |
| rs772835257 | 5:475,141 | C/T | — | likely benign |
| rs367871906 | 5:475,156 | C/T | — | likely benign |
| rs561447879 | 5:475,157 | A/G | — | uncertain significance |
| rs2126602624 | 5:475,165 | C/T | — | likely benign |
| rs775354904 | 5:475,166 | C/G | — | uncertain significance |
| rs765357168 | 5:475,170 | G/C | — | uncertain significance |
| rs370989766 | 5:475,174 | C/T | — | likely benign |
| rs755411995 | 5:475,180 | G/A | — | likely benign |
| rs2477531823 | 5:475,183 | C/A | — | likely benign |
| rs1438075692 | 5:475,196 | A/G | — | uncertain significance |
| rs2126602716 | 5:475,205 | C/T | — | uncertain significance |
| rs755839083 | 5:475,207 | G/A | — | likely benign |
| rs202198760 | 5:475,214 | G/T | — | likely benign |
| rs1195703175 | 5:475,222 | C/T | — | likely benign |
| rs778506774 | 5:475,223 | G/A | — | uncertain significance |
| rs1738634876 | 5:475,229 | A/C | — | uncertain significance |
| rs772125079 | 5:475,233 | C/T | — | uncertain significance |
| rs775477444 | 5:475,234 | A/G | — | likely benign |
| rs768462607 | 5:475,244 | A/G | — | uncertain significance |
| rs1228018863 | 5:475,245 | T/C | — | uncertain significance |
| rs763178133 | 5:475,252 | G/A | — | likely benign |
| rs371754723 | 5:475,254 | G/T | — | likely benign |
| rs373192316 | 5:475,264 | C/T | — | likely benign |
| rs201352986 | 5:475,265 | G/C | — | likely benign |
| rs369869036 | 5:475,267 | C/G | — | likely benign |
| rs11745923 | 5:475,408 | T/C | — | — |
| rs2477535085 | 5:475,658 | C/T | — | likely benign |
| rs2477535101 | 5:475,659 | C/T | — | likely benign |
| rs1484886097 | 5:475,660 | T/G | — | likely benign |
| rs1257697135 | 5:475,664 | C/T | — | likely benign |
| rs775879505 | 5:475,667 | C/T | — | likely benign |
| rs1436350864 | 5:475,683 | G/A | — | likely benign |
| rs1441598292 | 5:475,692 | C/T | — | likely benign |
| rs142689247 | 5:475,704 | G/T | — | likely benign |
| rs1234162425 | 5:475,719 | G/A | — | likely benign |
| rs1738673652 | 5:475,722 | C/T | — | likely benign |
| rs1250993309 | 5:475,728 | C/A | — | likely benign |
| rs1307415897 | 5:475,734 | A/C | — | uncertain significance |
| rs2126603749 | 5:475,737 | C/T | — | uncertain significance |
| rs1045515052 | 5:475,743 | C/T | — | likely benign |
| rs1447518723 | 5:475,746 | A/C | — | uncertain significance |
| rs1325840731 | 5:475,748 | C/T | — | uncertain significance |
| rs2477535694 | 5:475,749 | A/G | — | likely benign |
| rs906835449 | 5:475,750 | T/C | — | uncertain significance |
| rs746926163 | 5:475,756 | G/A | — | uncertain significance |
| rs2477535940 | 5:475,761 | C/G | — | uncertain significance |
| rs1307573442 | 5:475,767 | G/A | — | likely benign |
| rs145183553 | 5:475,769 | T/C | — | likely benign |
| rs377080845 | 5:475,770 | G/C | — | uncertain significance |
| rs1738678822 | 5:475,777 | A/C | — | uncertain significance |
| rs1738679622 | 5:475,790 | G/A | — | likely benign |
| rs541220590 | 5:475,799 | G/A | — | likely benign |
| rs1466228997 | 5:475,800 | G/A | — | likely benign |
| rs370461749 | 5:475,804 | G/A | — | likely benign |
| rs1392336378 | 5:475,806 | G/A | — | likely benign |
| rs377586992 | 5:476,123 | C/A | — | likely benign |
| rs1738703529 | 5:476,127 | C/T | — | likely benign |
| rs754918836 | 5:476,131 | G/A | — | uncertain significance |
| rs1738704212 | 5:476,140 | T/C | — | uncertain significance |
| rs755925001 | 5:476,148 | G/T | — | likely benign |
| rs199817159 | 5:476,158 | T/C | — | uncertain significance |
| rs746091250 | 5:476,160 | C/T | — | likely benign |
| rs541347122 | 5:476,161 | G/A | — | conflicting classifications of pathogenicity |
| rs775487237 | 5:476,167 | C/G | — | uncertain significance |
| rs368610931 | 5:476,168 | T/C | — | uncertain significance |
| rs1206787828 | 5:476,171 | C/T | — | uncertain significance |
Showing 100 of 571 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.