SLC36A2
solute carrier family 36 member 2
Summary
This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]
Known Variants119 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs400878 | 5:150,696,171 | T/C | — | benign |
| rs10045447 | 5:150,696,265 | T/C | — | benign |
| rs140682366 | 5:150,696,419 | C/T | — | conflicting classifications of pathogenicity |
| rs2531888272 | 5:150,696,429 | G/C | — | likely benign |
| rs144651323 | 5:150,696,438 | G/A | — | likely benign |
| rs748266105 | 5:150,696,445 | G/A | — | uncertain significance |
| rs369907 | 5:150,696,447 | C/T | — | benign |
| rs745630698 | 5:150,696,451 | T/G | — | uncertain significance |
| rs369973376 | 5:150,696,474 | G/A | — | likely benign |
| rs1441752393 | 5:150,696,478 | C/A | — | uncertain significance |
| rs149534093 | 5:150,696,495 | G/A | — | likely benign |
| rs10042608 | 5:150,696,496 | G/A | — | benign |
| rs765638499 | 5:150,696,497 | C/T | — | uncertain significance |
| rs428064 | 5:150,696,498 | A/G | — | benign |
| rs751934235 | 5:150,696,516 | G/T | — | likely benign |
| rs755127928 | 5:150,696,519 | G/C | — | uncertain significance |
| rs431240 | 5:150,696,540 | C/T | — | benign |
| rs370237268 | 5:150,696,559 | G/C | — | likely benign |
| rs768372175 | 5:150,696,564 | G/A | — | likely benign |
| rs61572410 | 5:150,696,583 | G/T | — | benign |
| rs139985763 | 5:150,696,594 | G/T | — | likely benign |
| rs200334307 | 5:150,696,601 | A/G | — | uncertain significance |
| rs61737609 | 5:150,696,609 | A/G | — | benign |
| rs1755519959 | 5:150,696,622 | A/G | — | uncertain significance |
| rs549771542 | 5:150,696,628 | G/T | — | uncertain significance |
| rs149847490 | 5:150,696,639 | G/A | — | likely benign |
| rs771379718 | 5:150,696,652 | G/A | — | likely benign |
| rs190486100 | 5:150,696,654 | A/G | — | likely benign |
| rs540642486 | 5:150,698,314 | C/T | — | — |
| rs111552439 | 5:150,701,467 | G/C | — | benign |
| rs59157738 | 5:150,701,571 | G/A | — | benign |
| rs565180853 | 5:150,701,589 | A/G | — | likely benign |
| rs2531899723 | 5:150,701,591 | T/A | — | likely benign |
| rs532553052 | 5:150,701,622 | T/C | — | uncertain significance |
| rs764352852 | 5:150,701,630 | C/T | — | uncertain significance |
| rs146886732 | 5:150,701,637 | A/T | — | uncertain significance |
| rs140044970 | 5:150,701,661 | G/A | — | likely benign |
| rs755913700 | 5:150,701,670 | C/T | — | uncertain significance |
| rs774099891 | 5:150,701,672 | C/T | — | conflicting classifications of pathogenicity |
| rs2531900248 | 5:150,701,679 | T/C | — | likely benign |
| rs202021417 | 5:150,701,709 | C/T | — | uncertain significance |
| rs1755715304 | 5:150,701,729 | G/A | — | uncertain significance |
| rs34910192 | 5:150,701,743 | G/A | — | benign |
| rs59701389 | 5:150,701,820 | C/G | — | benign |
| rs61067578 | 5:150,702,299 | A/G | downstream gene variant | — |
| rs246497 | 5:150,704,724 | T/C | — | benign |
| rs246496 | 5:150,704,758 | A/G | — | benign |
| rs61730393 | 5:150,704,833 | G/C | — | benign |
| rs147978124 | 5:150,704,879 | C/T | — | likely benign |
| rs141645834 | 5:150,704,899 | G/A | — | uncertain significance |
| rs146104200 | 5:150,704,907 | C/G | — | uncertain significance |
| rs750985367 | 5:150,704,922 | C/T | — | uncertain significance |
| rs138947074 | 5:150,704,942 | G/A | — | likely benign |
| rs142783014 | 5:150,704,946 | G/A | — | likely benign |
| rs74403861 | 5:150,704,975 | G/A | — | likely benign |
| rs201530548 | 5:150,704,980 | G/A | — | uncertain significance |
| rs185012002 | 5:150,709,740 | G/A | intron variant | — |
| rs77349378 | 5:150,712,767 | C/T | — | benign |
| rs139170229 | 5:150,712,837 | G/C | — | uncertain significance |
| rs780286885 | 5:150,712,862 | A/G | — | likely benign |
| rs78850023 | 5:150,712,898 | A/T | — | benign |
| rs79280880 | 5:150,712,910 | C/T | — | benign |
| rs76321297 | 5:150,713,075 | G/A | — | benign |
| rs765872409 | 5:150,714,913 | T/A | — | uncertain significance |
| rs1561658060 | 5:150,714,924 | A/T | — | uncertain significance |
| rs768209798 | 5:150,714,933 | C/G | — | uncertain significance |
| rs375217928 | 5:150,714,965 | G/A | — | likely benign |
| rs143611303 | 5:150,715,021 | T/C | — | uncertain significance |
| rs144559356 | 5:150,715,032 | G/A | — | uncertain significance |
| rs146604514 | 5:150,715,047 | G/A | — | likely benign |
| rs764207021 | 5:150,715,082 | G/C | — | likely benign |
| rs36053782 | 5:150,715,103 | C/T | — | benign |
| rs79924249 | 5:150,715,113 | G/A | — | benign |
| rs7721673 | 5:150,715,204 | G/A | — | benign |
| rs112443247 | 5:150,716,247 | G/A | intron variant | — |
| rs9324691 | 5:150,718,462 | T/G | — | benign |
| rs576631286 | 5:150,718,608 | T/C | — | likely benign |
| rs149024678 | 5:150,718,634 | T/C | — | likely benign |
| rs2479822422 | 5:150,718,650 | T/C | — | uncertain significance |
| rs776428086 | 5:150,718,675 | G/A | — | likely benign |
| rs766388628 | 5:150,718,698 | C/T | — | uncertain significance |
| rs2431080 | 5:150,718,874 | C/A | — | benign |
| rs114785206 | 5:150,722,435 | C/T | — | benign |
| rs776374701 | 5:150,722,441 | C/G | — | likely benign |
| rs80168260 | 5:150,722,459 | G/A | — | likely benign |
| rs79265984 | 5:150,722,463 | G/A | — | likely benign |
| rs754153820 | 5:150,722,480 | C/G | — | uncertain significance |
| rs111393736 | 5:150,722,511 | C/T | — | likely benign |
| rs148360560 | 5:150,722,512 | G/A | — | uncertain significance |
| rs2431079 | 5:150,722,675 | G/A | — | benign |
| rs10062214 | 5:150,722,735 | T/C | — | benign |
| rs764528872 | 5:150,723,077 | C/T | — | uncertain significance |
| rs971616033 | 5:150,723,083 | C/T | — | likely benign |
| rs200123093 | 5:150,723,092 | C/T | — | likely benign |
| rs867220073 | 5:150,723,103 | G/A | — | likely benign |
| rs1405883382 | 5:150,723,126 | T/C | — | likely benign |
| rs35403441 | 5:150,723,142 | C/T | — | likely benign |
| rs77010315 | 5:150,723,155 | C/A | missense variant | uncertain significance |
| rs373407521 | 5:150,723,156 | C/T | — | uncertain significance |
| rs6579855 | 5:150,723,550 | T/A | — | benign |
Showing 100 of 119 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.