SLC49A4
solute carrier family 49 member 4
Summary
This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs777402877 | 3:122,514,097 | G/C | — | uncertain significance |
| rs1423186021 | 3:122,514,101 | C/G | — | uncertain significance |
| rs2473502028 | 3:122,514,115 | T/A | — | uncertain significance |
| rs2473502103 | 3:122,514,133 | G/A | — | uncertain significance |
| rs1936001213 | 3:122,514,146 | C/T | — | uncertain significance |
| rs2473502200 | 3:122,514,151 | C/T | — | benign |
| rs550249154 | 3:122,514,172 | G/T | — | uncertain significance |
| rs755722102 | 3:122,514,346 | C/T | — | uncertain significance |
| rs150852183 | 3:122,525,757 | C/G | — | uncertain significance |
| rs529655779 | 3:122,525,766 | A/G | — | uncertain significance |
| rs755492248 | 3:122,545,774 | C/T | — | uncertain significance |
| rs1240501137 | 3:122,545,889 | G/A | — | uncertain significance |
| rs749222761 | 3:122,552,239 | T/C | — | uncertain significance |
| rs770051652 | 3:122,552,269 | G/A | — | uncertain significance |
| rs565672113 | 3:122,564,453 | C/A | — | — |
| rs763882530 | 3:122,578,975 | C/T | — | uncertain significance |
| rs377713919 | 3:122,578,996 | C/T | — | uncertain significance |
| rs1937042255 | 3:122,579,038 | C/T | — | uncertain significance |
| rs199910977 | 3:122,579,044 | C/A | — | benign |
| rs375393527 | 3:122,591,312 | G/A | — | conflicting classifications of pathogenicity |
| rs759199187 | 3:122,591,315 | C/T | — | uncertain significance |
| rs2473579767 | 3:122,591,319 | T/C | — | uncertain significance |
| rs374610376 | 3:122,598,137 | C/T | — | uncertain significance |
| rs1274998378 | 3:122,598,146 | G/A | — | uncertain significance |
| rs2473585713 | 3:122,598,147 | T/G | — | uncertain significance |
| rs138397591 | 3:122,598,208 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.