SLC7A2
solute carrier family 7 member 2
Summary
The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1962772 | 8:17,370,776 | C/G | — | — |
| rs2157648 | 8:17,372,297 | C/A | — | — |
| rs13281892 | 8:17,372,697 | G/A | intron variant | — |
| rs2150729467 | 8:17,396,350 | G/A | — | uncertain significance |
| rs768654504 | 8:17,396,373 | A/G | — | uncertain significance |
| rs13259948 | 8:17,396,380 | G/A | — | benign |
| rs13259978 | 8:17,396,415 | G/C | missense variant | benign |
| rs200077616 | 8:17,396,420 | C/A | — | uncertain significance |
| rs199757672 | 8:17,396,441 | A/C | — | benign |
| rs114541623 | 8:17,400,830 | G/A | — | benign |
| rs762638165 | 8:17,400,838 | C/T | — | uncertain significance |
| rs765997833 | 8:17,400,840 | G/C | — | uncertain significance |
| rs367615909 | 8:17,400,843 | G/A | — | uncertain significance |
| rs1804759 | 8:17,400,957 | A/G | — | uncertain significance |
| rs761652013 | 8:17,401,053 | G/A | — | uncertain significance |
| rs1353444587 | 8:17,401,080 | G/T | — | uncertain significance |
| rs748022960 | 8:17,401,123 | G/A | — | uncertain significance |
| rs955307467 | 8:17,401,153 | A/G | — | uncertain significance |
| rs145975234 | 8:17,401,161 | G/C | — | benign |
| rs771035850 | 8:17,401,216 | A/G | — | uncertain significance |
| rs1253275515 | 8:17,401,977 | A/G | — | uncertain significance |
| rs371599495 | 8:17,402,007 | C/G | — | uncertain significance |
| rs2486474947 | 8:17,402,038 | C/T | — | uncertain significance |
| rs773517274 | 8:17,402,051 | G/A | — | uncertain significance |
| rs754982793 | 8:17,402,091 | G/T | — | uncertain significance |
| rs737039 | 8:17,406,183 | G/A | — | benign |
| rs2486505035 | 8:17,406,266 | T/G | — | uncertain significance |
| rs2486505461 | 8:17,406,306 | T/C | — | uncertain significance |
| rs772845860 | 8:17,406,314 | T/G | — | uncertain significance |
| rs2486505760 | 8:17,406,334 | A/G | — | uncertain significance |
| rs750614302 | 8:17,407,818 | C/T | — | uncertain significance |
| rs374729310 | 8:17,407,842 | A/T | — | uncertain significance |
| rs138338525 | 8:17,407,875 | C/T | — | uncertain significance |
| rs1802392142 | 8:17,407,911 | C/T | — | uncertain significance |
| rs1173202317 | 8:17,409,383 | C/A | — | uncertain significance |
| rs546256741 | 8:17,409,392 | C/G | — | uncertain significance |
| rs2486527563 | 8:17,409,411 | C/T | — | uncertain significance |
| rs774371210 | 8:17,412,101 | T/C | — | uncertain significance |
| rs376240561 | 8:17,412,116 | C/T | — | uncertain significance |
| rs747726871 | 8:17,412,124 | G/A | — | uncertain significance |
| rs1134976 | 8:17,412,137 | A/T | — | uncertain significance |
| rs1134975 | 8:17,412,140 | G/C | — | benign |
| rs201291984 | 8:17,412,170 | C/T | — | uncertain significance |
| rs771008189 | 8:17,412,568 | C/T | — | uncertain significance |
| rs148874201 | 8:17,415,826 | C/T | — | benign |
| rs1563481081 | 8:17,415,875 | T/C | — | uncertain significance |
| rs769481523 | 8:17,415,905 | A/G | — | uncertain significance |
| rs1802909226 | 8:17,417,872 | G/A | — | likely benign |
| rs367895228 | 8:17,417,877 | C/A | — | uncertain significance |
| rs745585501 | 8:17,417,893 | T/A | — | uncertain significance |
| rs752981306 | 8:17,417,904 | C/G | — | likely benign |
| rs377088674 | 8:17,417,967 | C/T | — | uncertain significance |
| rs750911955 | 8:17,417,968 | G/A | — | uncertain significance |
| rs754501359 | 8:17,417,973 | C/T | — | uncertain significance |
| rs150497905 | 8:17,419,470 | C/T | — | benign |
| rs761414560 | 8:17,419,483 | C/G | — | uncertain significance |
| rs139462829 | 8:17,419,529 | C/T | — | benign |
| rs62622371 | 8:17,419,539 | A/G | — | benign |
| rs114454370 | 8:17,421,153 | G/C | — | benign |
| rs770530994 | 8:17,421,163 | T/A | — | uncertain significance |
| rs140440674 | 8:17,421,188 | C/G | missense variant | — |
| rs559031214 | 8:17,422,489 | G/C | — | uncertain significance |
| rs141765192 | 8:17,422,525 | A/G | — | uncertain significance |
| rs372948626 | 8:17,422,550 | C/A | — | uncertain significance |
| rs370916645 | 8:17,422,560 | G/C | — | uncertain significance |
| rs151179886 | 8:17,422,602 | C/T | — | likely benign |
| rs144029357 | 8:17,426,832 | A/T | 3 prime UTR variant | — |
| rs75902664 | 8:17,427,186 | A/G | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.