SLC12A2
solute carrier family 12 member 2
Summary
The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume. This protein is phosphorylated in response to DNA damage. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
Known Variants376 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3812049 | 5:127,418,850 | C/T | — | — |
| rs2480679879 | 5:127,419,650 | G/C | — | uncertain significance |
| rs575250660 | 5:127,419,664 | G/C | — | likely benign |
| rs1014756958 | 5:127,419,687 | G/T | — | uncertain significance |
| rs1025704186 | 5:127,419,698 | G/T | — | uncertain significance |
| rs1759930102 | 5:127,419,710 | C/T | — | uncertain significance |
| rs569634871 | 5:127,419,745 | A/G | — | benign |
| rs535757373 | 5:127,419,748 | G/A | — | likely benign |
| rs1017097469 | 5:127,419,759 | C/G | — | uncertain significance |
| rs1402788569 | 5:127,419,766 | C/T | — | likely benign |
| rs1759939068 | 5:127,419,773 | C/G | — | uncertain significance |
| rs1160378341 | 5:127,419,783 | C/T | — | uncertain significance |
| rs1344766017 | 5:127,419,791 | G/C | — | uncertain significance |
| rs555325149 | 5:127,419,793 | G/C | — | likely benign |
| rs572300062 | 5:127,419,800 | G/A | — | uncertain significance |
| rs540907216 | 5:127,419,802 | C/G | — | benign |
| rs777947401 | 5:127,419,805 | C/T | — | likely benign |
| rs1214037505 | 5:127,419,823 | G/T | — | uncertain significance |
| rs924402922 | 5:127,419,825 | G/T | — | uncertain significance |
| rs542192991 | 5:127,419,830 | G/A | — | uncertain significance |
| rs2480684115 | 5:127,419,836 | G/A | — | uncertain significance |
| rs2480684211 | 5:127,419,842 | G/A | — | uncertain significance |
| rs913007209 | 5:127,419,846 | G/A | — | uncertain significance |
| rs1343216649 | 5:127,419,854 | A/G | — | uncertain significance |
| rs867036319 | 5:127,419,857 | C/T | — | uncertain significance |
| rs2480684589 | 5:127,419,860 | T/A | — | uncertain significance |
| rs1178082364 | 5:127,419,861 | T/G | — | uncertain significance |
| rs757673212 | 5:127,419,873 | C/G | — | uncertain significance |
| rs557916029 | 5:127,419,881 | A/C | — | uncertain significance |
| rs1424084588 | 5:127,419,889 | C/G | — | uncertain significance |
| rs1444319438 | 5:127,419,895 | G/A | — | likely benign |
| rs543480974 | 5:127,419,907 | C/T | — | likely benign |
| rs1759952931 | 5:127,419,914 | G/C | — | uncertain significance |
| rs2480685688 | 5:127,419,923 | G/T | — | uncertain significance |
| rs1320829080 | 5:127,419,925 | C/T | — | likely benign |
| rs1561644444 | 5:127,419,931 | T/G | — | likely benign |
| rs769929100 | 5:127,419,934 | G/T | — | likely benign |
| rs1759959773 | 5:127,419,935 | G/A | — | uncertain significance |
| rs1759960245 | 5:127,419,936 | C/G | — | uncertain significance |
| rs1246652866 | 5:127,419,940 | G/A | — | likely benign |
| rs749472667 | 5:127,419,948 | C/T | — | uncertain significance |
| rs181849063 | 5:127,419,949 | G/A | — | likely benign |
| rs914390065 | 5:127,419,955 | A/G | — | likely benign |
| rs1759967655 | 5:127,419,963 | C/A | — | uncertain significance |
| rs1243566020 | 5:127,419,970 | T/G | — | likely benign |
| rs1243644024 | 5:127,419,988 | G/C | — | uncertain significance |
| rs1257964723 | 5:127,419,993 | C/G | — | uncertain significance |
| rs375182518 | 5:127,420,002 | A/G | — | uncertain significance |
| rs529205972 | 5:127,420,004 | G/C | — | uncertain significance |
| rs1244101825 | 5:127,420,008 | A/T | — | uncertain significance |
| rs757696233 | 5:127,420,022 | A/T | — | uncertain significance |
| rs925779744 | 5:127,420,023 | G/A | — | uncertain significance |
| rs750922559 | 5:127,420,028 | C/T | — | uncertain significance |
| rs1439361723 | 5:127,420,031 | G/T | — | uncertain significance |
| rs146145321 | 5:127,420,037 | G/A | — | conflicting classifications of pathogenicity |
| rs912070089 | 5:127,420,041 | G/A | — | uncertain significance |
| rs1561645014 | 5:127,420,043 | G/C | — | uncertain significance |
| rs1282908410 | 5:127,420,053 | A/G | — | uncertain significance |
| rs139047347 | 5:127,420,066 | C/T | — | likely benign |
| rs767945017 | 5:127,420,076 | G/A | — | uncertain significance |
| rs753956161 | 5:127,420,083 | C/T | — | uncertain significance |
| rs140428806 | 5:127,420,085 | G/A | — | uncertain significance |
| rs114437564 | 5:127,420,095 | C/T | — | conflicting classifications of pathogenicity |
| rs748049723 | 5:127,420,105 | A/G | — | likely benign |
| rs1178023917 | 5:127,420,110 | G/C | — | uncertain significance |
| rs769308901 | 5:127,420,112 | C/T | — | likely benign |
| rs774885519 | 5:127,420,122 | C/T | — | conflicting classifications of pathogenicity |
| rs1385619799 | 5:127,420,124 | G/A | — | uncertain significance |
| rs150435168 | 5:127,420,129 | G/C | — | likely benign |
| rs201022814 | 5:127,420,135 | A/T | — | likely benign |
| rs138234695 | 5:127,420,141 | C/T | — | likely benign |
| rs1264953706 | 5:127,420,146 | C/G | — | uncertain significance |
| rs2126629912 | 5:127,420,148 | A/G | — | uncertain significance |
| rs759988909 | 5:127,420,150 | C/G | — | uncertain significance |
| rs765308269 | 5:127,420,151 | G/T | — | uncertain significance |
| rs1029888329 | 5:127,420,152 | T/A | — | uncertain significance |
| rs778035331 | 5:127,420,162 | G/A | — | likely benign |
| rs2480690604 | 5:127,420,166 | G/A | — | uncertain significance |
| rs149585221 | 5:127,420,170 | G/C | — | likely benign |
| rs373911135 | 5:127,420,180 | G/C | — | benign |
| rs1227396607 | 5:127,420,217 | G/A | — | uncertain significance |
| rs2480691669 | 5:127,420,223 | A/G | — | uncertain significance |
| rs2480691896 | 5:127,420,238 | C/T | — | uncertain significance |
| rs376862484 | 5:127,420,242 | A/G | — | uncertain significance |
| rs201256664 | 5:127,420,260 | C/T | — | conflicting classifications of pathogenicity |
| rs115987674 | 5:127,420,273 | C/T | — | likely benign |
| rs761992472 | 5:127,420,298 | A/G | — | likely benign |
| rs2480692731 | 5:127,420,299 | T/G | — | uncertain significance |
| rs750220247 | 5:127,420,318 | C/G | — | uncertain significance |
| rs114976399 | 5:127,420,327 | C/T | — | benign |
| rs2480693100 | 5:127,420,331 | C/T | — | uncertain significance |
| rs374181175 | 5:127,420,338 | C/T | — | conflicting classifications of pathogenicity |
| rs138962699 | 5:127,420,342 | G/T | — | likely benign |
| rs1423542401 | 5:127,420,362 | T/A | — | uncertain significance |
| rs746686167 | 5:127,420,373 | C/T | — | likely benign |
| rs368335273 | 5:127,420,390 | C/G | — | conflicting classifications of pathogenicity |
| rs769192155 | 5:127,420,391 | G/A | — | uncertain significance |
| rs1452649281 | 5:127,420,418 | C/T | — | likely benign |
| rs1864922 | 5:127,420,700 | T/C | — | benign |
| rs6889311 | 5:127,431,285 | A/T | — | — |
Showing 100 of 376 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.