SLC36A1
solute carrier family 36 member 1
Summary
This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs10463316 | 5:150,746,034 | A/G | coding sequence variant | — |
| rs7700790 | 5:150,746,339 | G/T | downstream gene variant | — |
| rs11738994 | 5:150,809,089 | T/A | — | — |
| rs55656828 | 5:150,827,304 | G/T | — | — |
| rs144467857 | 5:150,828,678 | G/T | intron variant | — |
| rs113054198 | 5:150,837,798 | C/T | intron variant | — |
| rs2480363610 | 5:150,838,423 | A/T | — | uncertain significance |
| rs1401064699 | 5:150,838,483 | A/C | — | uncertain significance |
| rs138099002 | 5:150,843,202 | G/T | — | likely benign |
| rs357613 | 5:150,843,487 | G/A | intron variant | — |
| rs769130622 | 5:150,844,160 | G/A | — | likely benign |
| rs769924388 | 5:150,844,708 | C/T | — | uncertain significance |
| rs375805253 | 5:150,844,709 | G/A | — | uncertain significance |
| rs35204299 | 5:150,846,761 | C/T | — | conflicting classifications of pathogenicity |
| rs183398364 | 5:150,846,788 | A/G | — | uncertain significance |
| rs933415871 | 5:150,847,317 | C/T | — | uncertain significance |
| rs140124579 | 5:150,847,324 | T/G | — | uncertain significance |
| rs753950310 | 5:150,847,418 | A/G | — | likely benign |
| rs1476886279 | 5:150,847,470 | A/G | — | uncertain significance |
| rs2480607277 | 5:150,853,252 | C/A | — | uncertain significance |
| rs199656226 | 5:150,856,233 | T/C | — | uncertain significance |
| rs868368861 | 5:150,856,241 | A/T | — | uncertain significance |
| rs76045127 | 5:150,858,875 | C/T | — | likely benign |
| rs1025112273 | 5:150,858,924 | T/A | — | uncertain significance |
| rs751656706 | 5:150,858,944 | C/G | — | uncertain significance |
| rs9687945 | 5:150,858,977 | T/G | — | benign |
| rs936486159 | 5:150,858,997 | A/G | — | uncertain significance |
| rs145861097 | 5:150,867,005 | G/T | — | — |
| rs191784469 | 5:150,867,567 | C/T | — | uncertain significance |
| rs762767916 | 5:150,867,621 | C/T | — | uncertain significance |
| rs2480790240 | 5:150,867,675 | C/T | — | uncertain significance |
| rs150913271 | 5:150,867,742 | A/G | — | uncertain significance |
| rs2480791598 | 5:150,867,766 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.