SLC23A1
solute carrier family 23 member 1
Summary
The absorption of vitamin C into the body and its distribution to organs requires two sodium-dependent vitamin C transporters. This gene encodes one of the two transporters. The encoded protein is active in bulk vitamin C transport involving epithelial surfaces. Previously, this gene had an official symbol of SLC23A2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs112134293 | 5:138,703,554 | A/C | intron variant | — |
| rs530752062 | 5:138,707,742 | C/T | — | uncertain significance |
| rs2546966036 | 5:138,707,751 | T/C | — | likely benign |
| rs1757703624 | 5:138,707,843 | A/G | — | uncertain significance |
| rs762763454 | 5:138,707,882 | A/G | — | likely benign |
| rs116767990 | 5:138,707,951 | G/A | — | benign |
| rs6596473 | 5:138,710,576 | G/A | — | — |
| rs532160398 | 5:138,713,699 | T/C | — | uncertain significance |
| rs116659253 | 5:138,713,708 | G/A | — | uncertain significance |
| rs749195104 | 5:138,713,771 | A/C | — | uncertain significance |
| rs1758049775 | 5:138,713,980 | C/T | — | uncertain significance |
| rs1389684301 | 5:138,714,016 | A/C | — | uncertain significance |
| rs4257763 | 5:138,714,159 | G/C | — | — |
| rs145899167 | 5:138,714,370 | G/C | — | benign |
| rs11950646 | 5:138,714,474 | G/A | intron variant | — |
| rs148214051 | 5:138,714,918 | G/T | — | uncertain significance |
| rs749501846 | 5:138,715,025 | G/A | — | uncertain significance |
| rs116375935 | 5:138,715,419 | A/G | — | benign |
| rs775489994 | 5:138,715,466 | C/T | — | uncertain significance |
| rs33972313 | 5:138,715,502 | C/T | missense variant | — |
| rs35817838 | 5:138,715,520 | T/C | — | benign |
| rs1758180223 | 5:138,715,970 | C/T | — | uncertain significance |
| rs772739654 | 5:138,715,986 | G/C | — | likely benign |
| rs777964093 | 5:138,716,051 | C/T | — | likely benign |
| rs369457866 | 5:138,716,246 | A/C | — | uncertain significance |
| rs866636274 | 5:138,716,532 | C/T | — | uncertain significance |
| rs1185852140 | 5:138,716,570 | G/A | — | uncertain significance |
| rs200631596 | 5:138,717,627 | T/C | — | uncertain significance |
| rs775550290 | 5:138,717,639 | C/T | — | uncertain significance |
| rs771269619 | 5:138,718,275 | G/C | — | uncertain significance |
| rs1487129344 | 5:138,718,280 | C/G | — | uncertain significance |
| rs376403265 | 5:138,718,909 | G/C | — | uncertain significance |
| rs138079930 | 5:138,718,921 | C/T | — | benign |
| rs10063949 | 5:138,719,526 | T/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.