SLC13A1
solute carrier family 13 member 1
Summary
The protein encoded by this gene is an apical membrane Na(+)-sulfate cotransporter involved in sulfate homeostasis in the kidney. Defects in this gene lead to many pathophysiologic problems. [provided by RefSeq, May 2016]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs139324379 | 7:122,755,609 | G/A | — | uncertain significance |
| rs201999568 | 7:122,755,633 | A/T | — | uncertain significance |
| rs374273371 | 7:122,757,562 | A/G | — | uncertain significance |
| rs760957031 | 7:122,757,574 | G/T | — | uncertain significance |
| rs771366135 | 7:122,757,586 | G/T | — | uncertain significance |
| rs769140997 | 7:122,759,166 | A/G | — | uncertain significance |
| rs372571302 | 7:122,759,197 | A/C | — | uncertain significance |
| rs758207818 | 7:122,759,221 | T/C | — | uncertain significance |
| rs146478973 | 7:122,759,242 | G/A | — | uncertain significance |
| rs4727963 | 7:122,759,980 | C/T | intron variant | — |
| rs374304475 | 7:122,763,187 | C/T | — | uncertain significance |
| rs2485177491 | 7:122,763,211 | C/A | — | uncertain significance |
| rs755729869 | 7:122,765,640 | G/A | — | uncertain significance |
| rs200260956 | 7:122,765,656 | T/A | — | uncertain significance |
| rs138989506 | 7:122,768,941 | C/T | missense variant | — |
| rs2485207048 | 7:122,769,438 | T/A | — | uncertain significance |
| rs201161356 | 7:122,769,443 | G/T | — | uncertain significance |
| rs758308922 | 7:122,769,485 | G/A | — | uncertain significance |
| rs763656426 | 7:122,769,507 | T/C | — | uncertain significance |
| rs1793681512 | 7:122,769,512 | C/T | — | uncertain significance |
| rs138184794 | 7:122,774,558 | T/C | — | benign |
| rs28364200 | 7:122,774,566 | C/T | — | likely benign |
| rs1794381426 | 7:122,787,224 | C/G | — | uncertain significance |
| rs745484388 | 7:122,787,226 | C/T | — | uncertain significance |
| rs10231144 | 7:122,787,306 | G/A | — | benign |
| rs201362717 | 7:122,787,315 | C/T | — | uncertain significance |
| rs1795140276 | 7:122,808,438 | T/C | — | uncertain significance |
| rs375411417 | 7:122,808,471 | T/C | — | likely benign |
| rs28364231 | 7:122,808,474 | T/C | — | benign |
| rs1290852653 | 7:122,808,565 | C/A | — | uncertain significance |
| rs2485451565 | 7:122,808,599 | A/T | — | likely benign |
| rs777474820 | 7:122,809,232 | C/T | — | uncertain significance |
| rs139662385 | 7:122,809,276 | T/C | — | likely benign |
| rs28364195 | 7:122,809,302 | C/T | — | likely benign |
| rs148839931 | 7:122,809,303 | G/A | — | likely benign |
| rs756660152 | 7:122,809,325 | C/G | — | uncertain significance |
| rs199847422 | 7:122,809,363 | G/A | — | uncertain significance |
| rs761906487 | 7:122,811,910 | T/G | — | benign |
| rs1585391668 | 7:122,821,061 | A/C | — | uncertain significance |
| rs777702216 | 7:122,821,095 | G/A | — | uncertain significance |
| rs765881476 | 7:122,821,155 | C/T | — | uncertain significance |
| rs188136743 | 7:122,834,735 | G/A | intron variant | — |
| rs373383501 | 7:122,839,955 | C/G | — | uncertain significance |
| rs145044274 | 7:122,839,956 | G/T | — | likely benign |
| rs28364172 | 7:122,839,967 | G/A | stop gained | — |
| rs141951667 | 7:122,839,986 | A/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.