SLC38A4
solute carrier family 38 member 4
Summary
SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs773266686 | 12:47,162,112 | C/G | — | uncertain significance |
| rs542649471 | 12:47,163,115 | C/T | — | uncertain significance |
| rs763698118 | 12:47,163,171 | G/C | — | uncertain significance |
| rs2539745528 | 12:47,163,196 | T/G | — | uncertain significance |
| rs2539750036 | 12:47,168,891 | T/C | — | uncertain significance |
| rs1938496368 | 12:47,168,948 | C/T | — | uncertain significance |
| rs1255940496 | 12:47,170,762 | C/T | — | uncertain significance |
| rs768636628 | 12:47,170,779 | C/T | — | likely benign |
| rs2539753744 | 12:47,172,322 | C/T | — | uncertain significance |
| rs753524599 | 12:47,172,354 | T/C | — | likely benign |
| rs77503738 | 12:47,172,417 | A/G | missense variant | — |
| rs1938579028 | 12:47,172,432 | T/A | — | uncertain significance |
| rs375195006 | 12:47,172,445 | A/C | — | uncertain significance |
| rs12307687 | 12:47,175,866 | A/T | intron variant | — |
| rs201594735 | 12:47,178,352 | C/A | — | uncertain significance |
| rs77777887 | 12:47,180,881 | A/T | regulatory region variant | — |
| rs79297632 | 12:47,181,325 | G/A | — | — |
| rs35448881 | 12:47,181,809 | G/A | — | benign |
| rs2539764878 | 12:47,182,312 | T/A | — | uncertain significance |
| rs375797648 | 12:47,182,357 | T/C | — | uncertain significance |
| rs2539765016 | 12:47,182,368 | T/A | — | uncertain significance |
| rs77996994 | 12:47,185,808 | A/T | intron variant | — |
| rs2065358466 | 12:47,186,785 | G/A | — | uncertain significance |
| rs2539769266 | 12:47,186,829 | A/G | — | uncertain significance |
| rs78855118 | 12:47,191,492 | C/T | intron variant | — |
| rs10881001 | 12:47,194,732 | G/A | intron variant | — |
| rs17666239 | 12:47,194,757 | T/A | intron variant | — |
| rs78803796 | 12:47,195,056 | G/C | intron variant | — |
| rs78021259 | 12:47,195,191 | G/A | intron variant | — |
| rs11183617 | 12:47,195,289 | C/T | intron variant | — |
| rs2465608 | 12:47,196,505 | A/G | intron variant | — |
| rs2429472 | 12:47,198,709 | T/C | intron variant | — |
| rs113674212 | 12:47,198,856 | C/A | intron variant | — |
| rs2429473 | 12:47,198,899 | C/A | intron variant | — |
| rs79020793 | 12:47,199,549 | G/A | intron variant | — |
| rs75017413 | 12:47,199,651 | T/C | — | — |
| rs7963364 | 12:47,214,221 | T/C | intron variant | — |
| rs7963399 | 12:47,214,292 | T/C | intron variant | — |
| rs58135862 | 12:47,218,777 | C/T | intron variant | — |
| rs560322937 | 12:47,222,099 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.