SLC43A2
solute carrier family 43 member 2
Summary
This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs947286216 | 17:1,478,927 | C/T | — | uncertain significance |
| rs541726546 | 17:1,478,977 | C/A | — | uncertain significance |
| rs2543466435 | 17:1,479,041 | G/A | — | uncertain significance |
| rs759744869 | 17:1,479,053 | C/T | — | uncertain significance |
| rs2543470186 | 17:1,479,925 | G/A | — | uncertain significance |
| rs2543470278 | 17:1,479,938 | G/T | — | uncertain significance |
| rs537552052 | 17:1,485,246 | A/G | — | — |
| rs141844944 | 17:1,485,702 | C/T | intron variant | — |
| rs1289205385 | 17:1,486,553 | T/C | — | uncertain significance |
| rs758550681 | 17:1,486,563 | C/T | — | uncertain significance |
| rs770694504 | 17:1,486,584 | T/A | — | uncertain significance |
| rs760592707 | 17:1,486,610 | T/C | — | uncertain significance |
| rs1282736934 | 17:1,486,618 | T/G | — | uncertain significance |
| rs1192449608 | 17:1,486,624 | C/G | — | uncertain significance |
| rs148869741 | 17:1,486,626 | C/T | — | uncertain significance |
| rs143568503 | 17:1,489,214 | C/T | — | uncertain significance |
| rs137987228 | 17:1,489,226 | C/T | — | uncertain significance |
| rs529170281 | 17:1,489,240 | G/T | — | uncertain significance |
| rs9892753 | 17:1,490,236 | C/T | — | benign |
| rs962359625 | 17:1,494,144 | C/T | — | uncertain significance |
| rs779514207 | 17:1,494,173 | G/A | — | uncertain significance |
| rs141151839 | 17:1,494,191 | A/T | — | uncertain significance |
| rs781709945 | 17:1,494,596 | C/T | — | uncertain significance |
| rs775365597 | 17:1,494,622 | C/T | — | uncertain significance |
| rs143739047 | 17:1,494,634 | G/A | — | uncertain significance |
| rs369338929 | 17:1,494,679 | C/T | — | uncertain significance |
| rs2543526713 | 17:1,494,905 | T/C | — | uncertain significance |
| rs935113811 | 17:1,494,942 | C/T | — | uncertain significance |
| rs753187966 | 17:1,496,488 | C/T | — | uncertain significance |
| rs900251552 | 17:1,496,555 | C/T | — | uncertain significance |
| rs543057062 | 17:1,497,935 | G/A | — | — |
| rs76608232 | 17:1,498,178 | A/T | — | — |
| rs139184613 | 17:1,505,388 | C/T | regulatory region variant | — |
| rs11652817 | 17:1,508,641 | A/T | regulatory region variant | — |
| rs764345691 | 17:1,518,285 | T/G | — | uncertain significance |
| rs1358058995 | 17:1,518,291 | C/T | — | uncertain significance |
| rs144086249 | 17:1,519,305 | C/A | downstream gene variant | — |
| rs1340112146 | 17:1,519,995 | C/T | — | uncertain significance |
| rs2543638057 | 17:1,531,038 | C/T | — | uncertain significance |
| rs373316043 | 17:1,531,103 | C/G | — | uncertain significance |
| rs1198470944 | 17:1,531,162 | G/A | — | uncertain significance |
| rs376843937 | 17:1,531,164 | G/A | — | uncertain significance |
| rs150841197 | 17:1,534,569 | G/A | downstream gene variant | — |
| rs76187874 | 17:1,535,054 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.