SLC43A1
solute carrier family 43 member 1
Summary
SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1253845754 | 11:57,252,574 | C/T | — | uncertain significance |
| rs1019250507 | 11:57,252,606 | G/A | — | uncertain significance |
| rs369137315 | 11:57,252,643 | G/A | — | uncertain significance |
| rs2495113226 | 11:57,252,697 | G/C | — | uncertain significance |
| rs748180956 | 11:57,254,603 | C/T | — | uncertain significance |
| rs148531954 | 11:57,254,616 | C/A | — | uncertain significance |
| rs368515308 | 11:57,254,645 | T/C | — | uncertain significance |
| rs1230300975 | 11:57,254,668 | G/A | — | uncertain significance |
| rs772035105 | 11:57,256,398 | T/C | — | uncertain significance |
| rs199917887 | 11:57,256,833 | C/T | — | uncertain significance |
| rs370085999 | 11:57,256,860 | C/T | — | uncertain significance |
| rs114947771 | 11:57,258,731 | C/T | — | benign |
| rs371253920 | 11:57,258,751 | C/T | — | uncertain significance |
| rs2495149260 | 11:57,258,755 | A/C | — | uncertain significance |
| rs35730224 | 11:57,259,193 | C/G | — | likely benign |
| rs2495154042 | 11:57,259,282 | G/A | — | uncertain significance |
| rs2495154238 | 11:57,259,302 | G/C | — | uncertain significance |
| rs201650859 | 11:57,259,321 | G/C | — | uncertain significance |
| rs200433921 | 11:57,259,330 | C/G | — | uncertain significance |
| rs10750864 | 11:57,259,694 | T/A | intron variant | — |
| rs778939092 | 11:57,261,493 | G/A | — | uncertain significance |
| rs776139933 | 11:57,261,520 | C/T | — | uncertain significance |
| rs772681191 | 11:57,261,526 | C/T | — | uncertain significance |
| rs1196191575 | 11:57,263,516 | T/C | — | uncertain significance |
| rs202001356 | 11:57,263,541 | T/C | — | likely benign |
| rs148673316 | 11:57,263,629 | G/A | — | likely benign |
| rs114467256 | 11:57,265,241 | C/T | — | benign |
| rs200312455 | 11:57,265,273 | T/C | — | uncertain significance |
| rs2495191165 | 11:57,265,290 | G/A | — | uncertain significance |
| rs746007553 | 11:57,265,294 | G/A | — | uncertain significance |
| rs1944133830 | 11:57,265,297 | G/C | — | uncertain significance |
| rs202015221 | 11:57,268,319 | G/A | — | uncertain significance |
| rs115146548 | 11:57,268,493 | G/A | — | benign |
| rs769410310 | 11:57,268,638 | G/A | — | uncertain significance |
| rs201417664 | 11:57,268,659 | G/A | — | uncertain significance |
| rs142199497 | 11:57,268,701 | C/T | — | uncertain significance |
| rs777186092 | 11:57,268,747 | G/C | — | uncertain significance |
| rs2495276641 | 11:57,281,436 | C/T | — | uncertain significance |
| rs756646084 | 11:57,281,466 | A/T | — | uncertain significance |
| rs116007354 | 11:57,281,467 | G/T | — | benign |
| rs2495277814 | 11:57,281,535 | C/G | — | uncertain significance |
| rs775361786 | 11:57,281,541 | A/T | — | uncertain significance |
| rs868626446 | 11:57,281,557 | G/A | — | uncertain significance |
| rs116713079 | 11:57,281,574 | G/A | — | uncertain significance |
| rs1944620566 | 11:57,281,575 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.