SLC14A2
solute carrier family 14 member 2
Summary
The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]
Known Variants95 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11877664 | 18:42,746,459 | A/G | regulatory region variant | — |
| rs75497489 | 18:42,760,200 | T/C | intron variant | — |
| rs72902690 | 18:42,766,236 | A/C | — | — |
| rs56212930 | 18:42,774,650 | G/T | intergenic variant | — |
| rs269967 | 18:42,776,435 | A/T | intergenic variant | — |
| rs269972 | 18:42,777,478 | C/T | regulatory region variant | — |
| rs535560294 | 18:42,778,181 | A/G | — | — |
| rs17740231 | 18:42,781,883 | C/A | intergenic variant | — |
| rs921385 | 18:42,784,049 | G/T | intergenic variant | — |
| rs10502861 | 18:42,800,148 | C/T | intron variant | — |
| rs1381556 | 18:42,803,331 | T/C | intron variant | — |
| rs8085664 | 18:42,814,156 | C/T | — | — |
| rs568012551 | 18:42,815,791 | T/C | — | — |
| rs556651803 | 18:42,815,797 | C/T | — | — |
| rs7235910 | 18:42,823,994 | G/C | regulatory region variant | — |
| rs62092156 | 18:42,829,025 | G/A | intron variant | — |
| rs62092157 | 18:42,829,030 | C/T | intron variant | — |
| rs72906615 | 18:42,876,791 | G/A | — | — |
| rs58004513 | 18:42,887,885 | A/G | intron variant | — |
| rs1462151 | 18:42,896,817 | G/C | intron variant | — |
| rs2243803 | 18:42,956,672 | T/A | intron variant | — |
| rs772660139 | 18:43,012,847 | G/T | — | — |
| rs113537788 | 18:43,052,474 | C/G | intron variant | — |
| rs2193634 | 18:43,056,083 | C/T | intron variant | — |
| rs2612585 | 18:43,085,920 | A/G | upstream gene variant | — |
| rs62093096 | 18:43,089,642 | T/G | — | — |
| rs35277578 | 18:43,089,644 | G/T | — | — |
| rs2193637 | 18:43,092,664 | G/A | intron variant | — |
| rs2193635 | 18:43,096,236 | C/T | intron variant | — |
| rs868533 | 18:43,099,143 | G/A | — | — |
| rs72902304 | 18:43,101,269 | C/A | regulatory region variant | — |
| rs34793310 | 18:43,114,833 | A/C | intron variant | — |
| rs10502868 | 18:43,153,949 | T/C | intron variant | — |
| rs72906315 | 18:43,170,678 | C/T | intron variant | — |
| rs7227483 | 18:43,187,130 | A/G | intron variant | — |
| rs4890558 | 18:43,188,150 | C/A | — | — |
| rs181046070 | 18:43,200,097 | G/A | intron variant | — |
| rs7232775 | 18:43,202,404 | C/T | intron variant | — |
| rs768232144 | 18:43,204,693 | G/A | — | uncertain significance |
| rs147722325 | 18:43,204,716 | C/A | — | uncertain significance |
| rs760635115 | 18:43,204,726 | A/G | — | uncertain significance |
| rs763235524 | 18:43,204,733 | C/T | — | uncertain significance |
| rs200534486 | 18:43,205,654 | C/T | — | uncertain significance |
| rs145237117 | 18:43,205,655 | G/A | — | uncertain significance |
| rs137958949 | 18:43,205,663 | A/G | — | uncertain significance |
| rs371087349 | 18:43,205,797 | C/T | — | likely benign |
| rs2511380357 | 18:43,206,935 | C/A | — | uncertain significance |
| rs765167173 | 18:43,206,992 | A/G | — | uncertain significance |
| rs2511380587 | 18:43,206,994 | C/A | — | uncertain significance |
| rs908077709 | 18:43,207,006 | C/G | — | uncertain significance |
| rs796461013 | 18:43,207,061 | G/T | — | uncertain significance |
| rs199859786 | 18:43,207,076 | T/G | — | uncertain significance |
| rs760368681 | 18:43,207,079 | C/T | — | uncertain significance |
| rs577619398 | 18:43,212,349 | G/A | — | uncertain significance |
| rs780122056 | 18:43,212,436 | A/C | — | uncertain significance |
| rs2511395255 | 18:43,217,092 | T/C | — | uncertain significance |
| rs369970858 | 18:43,224,012 | C/T | — | uncertain significance |
| rs758164198 | 18:43,224,115 | G/T | — | uncertain significance |
| rs147906453 | 18:43,224,117 | C/A | — | uncertain significance |
| rs146625552 | 18:43,224,119 | C/A | — | uncertain significance |
| rs61738671 | 18:43,224,125 | G/A | — | benign |
| rs4890568 | 18:43,231,622 | G/A | downstream gene variant | — |
| rs148232674 | 18:43,243,801 | C/T | — | uncertain significance |
| rs997864797 | 18:43,243,852 | C/G | — | uncertain significance |
| rs1568000900 | 18:43,246,102 | T/C | — | uncertain significance |
| rs769663095 | 18:43,246,170 | A/G | — | uncertain significance |
| rs201849357 | 18:43,246,969 | C/T | — | uncertain significance |
| rs751258587 | 18:43,246,970 | G/C | — | uncertain significance |
| rs201689133 | 18:43,247,042 | G/T | — | uncertain significance |
| rs778206843 | 18:43,247,948 | T/G | — | uncertain significance |
| rs987108724 | 18:43,247,956 | A/G | — | uncertain significance |
| rs192396466 | 18:43,248,336 | C/T | — | uncertain significance |
| rs1317389849 | 18:43,248,342 | T/C | — | uncertain significance |
| rs148811905 | 18:43,248,346 | A/G | — | uncertain significance |
| rs2511445864 | 18:43,248,390 | G/A | — | uncertain significance |
| rs561656468 | 18:43,248,418 | C/T | — | uncertain significance |
| rs145938404 | 18:43,248,420 | G/A | — | uncertain significance |
| rs566511882 | 18:43,249,275 | A/G | — | uncertain significance |
| rs766949156 | 18:43,249,288 | C/T | — | uncertain significance |
| rs2046087388 | 18:43,249,291 | T/C | — | uncertain significance |
| rs138732488 | 18:43,249,385 | C/A | — | uncertain significance |
| rs149341098 | 18:43,249,386 | C/A | — | uncertain significance |
| rs1460221126 | 18:43,249,399 | C/A | — | uncertain significance |
| rs779856526 | 18:43,249,422 | G/A | — | uncertain significance |
| rs1123617 | 18:43,252,883 | G/T | missense variant | — |
| rs1334696536 | 18:43,252,890 | T/A | — | uncertain significance |
| rs1328340616 | 18:43,253,009 | G/C | — | uncertain significance |
| rs1053771326 | 18:43,253,648 | C/T | — | uncertain significance |
| rs2046180301 | 18:43,253,734 | A/G | — | uncertain significance |
| rs746466171 | 18:43,253,735 | T/C | — | uncertain significance |
| rs748984888 | 18:43,258,978 | A/G | — | uncertain significance |
| rs142050645 | 18:43,262,315 | G/A | — | uncertain significance |
| rs145826524 | 18:43,262,350 | A/G | — | uncertain significance |
| rs201800811 | 18:43,262,355 | C/A | — | uncertain significance |
| rs3745009 | 18:43,262,359 | G/C | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.