SLC6A20
solute carrier family 6 member 20
Summary
Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene belongs to the sodium:neurotransmitter symporter (SNF) family and functions as a proline transporter expressed in kidney and small intestine. Mutations in this gene are associated with Hyperglycinuria and Iminoglycinuria. [provided by RefSeq, Jul 2020]
Known Variants218 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150202041 | 3:45,796,949 | C/A | — | uncertain significance |
| rs2251109 | 3:45,796,951 | C/T | — | benign |
| rs886058525 | 3:45,796,984 | T/C | — | uncertain significance |
| rs569114783 | 3:45,797,034 | G/C | — | uncertain significance |
| rs886058526 | 3:45,797,062 | T/C | — | uncertain significance |
| rs562961153 | 3:45,797,066 | G/A | — | uncertain significance |
| rs886058527 | 3:45,797,087 | G/A | — | uncertain significance |
| rs924764104 | 3:45,797,128 | T/A | — | uncertain significance |
| rs912332829 | 3:45,797,150 | G/C | — | uncertain significance |
| rs116082988 | 3:45,797,352 | T/C | — | benign |
| rs1699531443 | 3:45,797,368 | C/A | — | uncertain significance |
| rs554759297 | 3:45,797,369 | G/A | — | uncertain significance |
| rs1699532342 | 3:45,797,419 | T/A | — | uncertain significance |
| rs1251895733 | 3:45,797,455 | A/G | — | uncertain significance |
| rs987669945 | 3:45,797,531 | T/C | — | uncertain significance |
| rs143482997 | 3:45,797,572 | A/T | — | uncertain significance |
| rs78001062 | 3:45,797,587 | G/A | — | uncertain significance |
| rs186839290 | 3:45,797,637 | G/A | — | uncertain significance |
| rs1699538615 | 3:45,797,662 | G/A | — | uncertain significance |
| rs1699540247 | 3:45,797,708 | T/A | — | uncertain significance |
| rs117126175 | 3:45,797,721 | C/T | — | uncertain significance |
| rs2742388 | 3:45,797,785 | G/A | — | benign |
| rs747117264 | 3:45,797,794 | A/T | — | uncertain significance |
| rs567898651 | 3:45,797,795 | G/C | — | uncertain significance |
| rs115438130 | 3:45,797,823 | A/G | — | likely benign |
| rs886058528 | 3:45,797,887 | A/G | — | uncertain significance |
| rs762250443 | 3:45,797,913 | T/G | — | uncertain significance |
| rs541425547 | 3:45,797,978 | A/G | — | uncertain significance |
| rs17078308 | 3:45,797,991 | T/C | — | benign |
| rs763196010 | 3:45,798,028 | T/G | — | uncertain significance |
| rs752347772 | 3:45,798,207 | G/A | — | uncertain significance |
| rs17213127 | 3:45,798,226 | T/C | — | benign |
| rs184846309 | 3:45,798,227 | G/C | — | uncertain significance |
| rs577430886 | 3:45,798,240 | G/C | — | uncertain significance |
| rs1027821966 | 3:45,798,272 | A/G | — | uncertain significance |
| rs886058529 | 3:45,798,294 | A/G | — | uncertain significance |
| rs778688066 | 3:45,798,435 | T/C | — | uncertain significance |
| rs913333687 | 3:45,798,445 | C/T | — | uncertain significance |
| rs745729359 | 3:45,798,483 | C/T | — | uncertain significance |
| rs141143340 | 3:45,798,566 | C/T | — | likely benign |
| rs1699558837 | 3:45,798,579 | G/C | — | uncertain significance |
| rs542094304 | 3:45,798,646 | C/T | — | likely benign |
| rs560591051 | 3:45,798,651 | A/C | — | uncertain significance |
| rs921917450 | 3:45,798,710 | G/A | — | uncertain significance |
| rs886058531 | 3:45,798,771 | A/G | — | uncertain significance |
| rs1246610058 | 3:45,798,827 | C/T | — | uncertain significance |
| rs139410525 | 3:45,798,841 | G/A | — | likely benign |
| rs886058532 | 3:45,798,868 | G/C | — | uncertain significance |
| rs886058533 | 3:45,798,874 | A/T | — | uncertain significance |
| rs1425320530 | 3:45,798,889 | C/G | — | uncertain significance |
| rs535180634 | 3:45,798,943 | T/C | — | uncertain significance |
| rs539802611 | 3:45,798,964 | T/A | — | likely benign |
| rs570836605 | 3:45,799,048 | T/C | — | likely benign |
| rs1035166323 | 3:45,799,119 | G/A | — | uncertain significance |
| rs531832972 | 3:45,799,125 | A/G | — | likely benign |
| rs866725621 | 3:45,799,126 | C/T | — | uncertain significance |
| rs144151884 | 3:45,799,142 | A/G | — | benign |
| rs1020234517 | 3:45,799,185 | A/G | — | uncertain significance |
| rs557189346 | 3:45,799,201 | C/T | — | uncertain significance |
| rs145987519 | 3:45,799,213 | C/T | — | uncertain significance |
| rs886058534 | 3:45,799,217 | T/C | — | uncertain significance |
| rs116590098 | 3:45,799,278 | A/G | — | benign |
| rs9811206 | 3:45,799,284 | A/G | — | benign |
| rs368608688 | 3:45,799,301 | A/G | — | uncertain significance |
| rs901771734 | 3:45,799,447 | G/A | — | uncertain significance |
| rs1325158693 | 3:45,799,453 | A/G | — | uncertain significance |
| rs886058537 | 3:45,799,553 | C/T | — | uncertain significance |
| rs2531750 | 3:45,799,599 | G/C | — | benign |
| rs145238631 | 3:45,799,740 | C/T | — | uncertain significance |
| rs1699585756 | 3:45,799,773 | C/T | — | uncertain significance |
| rs553024616 | 3:45,799,816 | G/A | — | uncertain significance |
| rs886058538 | 3:45,799,826 | G/A | — | uncertain significance |
| rs993581690 | 3:45,799,834 | G/A | — | uncertain significance |
| rs2251347 | 3:45,799,871 | C/T | — | benign |
| rs541823457 | 3:45,799,880 | C/T | — | uncertain significance |
| rs149175344 | 3:45,799,922 | T/C | — | likely benign |
| rs73060335 | 3:45,799,933 | G/A | — | benign |
| rs60986539 | 3:45,800,024 | C/T | — | likely benign |
| rs151248695 | 3:45,800,324 | C/T | — | likely benign |
| rs886058539 | 3:45,800,328 | T/G | — | uncertain significance |
| rs1699595536 | 3:45,800,330 | C/A | — | uncertain significance |
| rs1699598465 | 3:45,800,448 | G/C | — | uncertain significance |
| rs191934337 | 3:45,800,451 | C/T | — | uncertain significance |
| rs775225439 | 3:45,800,487 | C/T | — | likely benign |
| rs202094508 | 3:45,800,502 | G/A | — | uncertain significance |
| rs146474113 | 3:45,800,505 | G/A | — | uncertain significance |
| rs376448611 | 3:45,800,507 | C/T | — | conflicting classifications of pathogenicity |
| rs144826762 | 3:45,800,508 | G/A | — | uncertain significance |
| rs886058540 | 3:45,800,519 | G/T | — | uncertain significance |
| rs777908628 | 3:45,800,531 | G/A | — | likely benign |
| rs1438834489 | 3:45,800,535 | G/C | — | uncertain significance |
| rs200277005 | 3:45,800,572 | G/C | — | uncertain significance |
| rs750290577 | 3:45,800,576 | A/G | — | uncertain significance |
| rs776376221 | 3:45,800,594 | G/A | — | uncertain significance |
| rs141811843 | 3:45,800,603 | T/C | — | uncertain significance |
| rs575264353 | 3:45,800,605 | G/C | — | uncertain significance |
| rs1553659698 | 3:45,801,377 | A/C | — | uncertain significance |
| rs781437611 | 3:45,801,386 | G/A | — | uncertain significance |
| rs61731475 | 3:45,801,393 | T/C | — | likely benign |
| rs1319763365 | 3:45,801,401 | C/T | — | uncertain significance |
Showing 100 of 218 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.