SLC17A3
solute carrier family 17 member 3
Summary
The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs373421209 | 6:25,845,617 | C/T | — | uncertain significance |
| rs752582246 | 6:25,845,624 | G/A | — | uncertain significance |
| rs751300718 | 6:25,845,638 | G/A | — | uncertain significance |
| rs116732075 | 6:25,845,700 | G/A | — | benign |
| rs2481150367 | 6:25,845,726 | T/A | — | uncertain significance |
| rs116510165 | 6:25,847,673 | G/A | intron variant | — |
| rs1165191 | 6:25,847,847 | A/T | intron variant | — |
| rs1581519938 | 6:25,849,645 | G/C | — | uncertain significance |
| rs768227844 | 6:25,849,648 | A/G | — | uncertain significance |
| rs1765233462 | 6:25,849,690 | T/C | — | uncertain significance |
| rs138285606 | 6:25,850,075 | C/T | — | uncertain significance |
| rs368370729 | 6:25,850,081 | G/A | — | uncertain significance |
| rs151018667 | 6:25,850,094 | A/T | — | benign |
| rs141619987 | 6:25,850,164 | T/C | — | benign |
| rs387907256 | 6:25,850,769 | A/G | — | association |
| rs1348669947 | 6:25,850,827 | G/T | — | uncertain significance |
| rs56027330 | 6:25,850,845 | T/C | — | benign |
| rs1765259423 | 6:25,850,848 | C/T | — | uncertain significance |
| rs755262967 | 6:25,851,055 | C/T | — | uncertain significance |
| rs1165187 | 6:25,851,369 | T/C | intron variant | — |
| rs1747551 | 6:25,851,529 | A/G | intron variant | — |
| rs1747550 | 6:25,851,533 | A/T | — | — |
| rs185123354 | 6:25,853,521 | T/C | — | — |
| rs371437945 | 6:25,855,458 | C/T | — | uncertain significance |
| rs1186313 | 6:25,856,881 | T/C | intron variant | — |
| rs1165167 | 6:25,860,688 | A/G | intron variant | — |
| rs547902035 | 6:25,861,132 | T/G | — | — |
| rs1765449230 | 6:25,861,900 | A/C | — | uncertain significance |
| rs556407051 | 6:25,862,549 | G/A | — | uncertain significance |
| rs1182574503 | 6:25,862,551 | G/T | — | uncertain significance |
| rs387907257 | 6:25,862,562 | T/G | — | risk factor |
| rs758625183 | 6:25,862,589 | T/C | — | uncertain significance |
| rs756988365 | 6:25,862,609 | G/A | — | likely benign |
| rs2481182141 | 6:25,862,627 | T/C | — | uncertain significance |
| rs142438811 | 6:25,862,634 | C/T | — | likely benign |
| rs780441613 | 6:25,862,640 | C/T | — | uncertain significance |
| rs1165163 | 6:25,863,487 | G/A | — | — |
| rs13211947 | 6:25,864,818 | C/T | intron variant | — |
| rs1214976792 | 6:25,868,557 | A/G | — | uncertain significance |
| rs143835853 | 6:25,868,567 | C/T | — | uncertain significance |
| rs941646429 | 6:25,868,575 | C/T | — | uncertain significance |
| rs548987 | 6:25,869,371 | G/C | intron variant | — |
| rs62394296 | 6:25,870,381 | C/T | intron variant | — |
| rs1165205 | 6:25,870,542 | T/A | intron variant | — |
| rs62394299 | 6:25,873,190 | T/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.