SLC25A47
solute carrier family 25 member 47
Summary
This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to be an uncoupling protein that uncouples mitochondrial respiration from ATP synthesis by dissipating the transmembrane proton gradient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144140477 | 14:100,789,764 | G/A | — | uncertain significance |
| rs2549213004 | 14:100,789,777 | G/A | — | uncertain significance |
| rs755073618 | 14:100,792,133 | G/A | — | uncertain significance |
| rs193920797 | 14:100,792,152 | C/T | — | uncertain significance |
| rs146337643 | 14:100,792,521 | A/G | — | uncertain significance |
| rs767717001 | 14:100,792,558 | G/A | — | likely benign |
| rs1335462741 | 14:100,793,525 | G/C | — | uncertain significance |
| rs117307527 | 14:100,793,550 | C/T | — | uncertain significance |
| rs377111566 | 14:100,793,558 | G/T | — | uncertain significance |
| rs749187512 | 14:100,793,627 | C/T | — | uncertain significance |
| rs371727043 | 14:100,793,628 | G/A | — | likely benign |
| rs577776623 | 14:100,793,634 | G/A | — | uncertain significance |
| rs141188939 | 14:100,793,676 | C/A | — | uncertain significance |
| rs766893032 | 14:100,793,706 | G/A | — | uncertain significance |
| rs7147511 | 14:100,794,818 | C/T | intron variant | — |
| rs138627280 | 14:100,795,109 | C/T | — | uncertain significance |
| rs370998352 | 14:100,795,121 | C/T | — | uncertain significance |
| rs199557912 | 14:100,795,135 | C/T | — | uncertain significance |
| rs374474564 | 14:100,795,136 | G/A | — | uncertain significance |
| rs35007880 | 14:100,795,139 | G/T | — | benign |
| rs775185335 | 14:100,795,145 | C/T | — | uncertain significance |
| rs144274838 | 14:100,795,180 | C/T | — | uncertain significance |
| rs768203496 | 14:100,795,214 | G/A | — | uncertain significance |
| rs751819571 | 14:100,795,247 | G/A | — | uncertain significance |
| rs147730585 | 14:100,795,348 | G/A | — | uncertain significance |
| rs773487246 | 14:100,795,363 | G/A | — | uncertain significance |
| rs149283899 | 14:100,795,375 | C/T | — | likely benign |
| rs549187317 | 14:100,795,767 | A/G | — | uncertain significance |
| rs148360182 | 14:100,795,821 | C/T | — | likely benign |
| rs145556108 | 14:100,795,869 | C/T | — | uncertain significance |
| rs780481381 | 14:100,795,875 | C/T | — | uncertain significance |
| rs538434141 | 14:100,795,879 | T/A | — | uncertain significance |
| rs150644466 | 14:100,795,911 | T/C | — | uncertain significance |
| rs138774462 | 14:100,795,916 | T/C | — | likely benign |
| rs188750813 | 14:100,795,935 | G/A | — | uncertain significance |
| rs141510710 | 14:100,795,937 | C/T | — | likely benign |
| rs767646444 | 14:100,795,938 | G/A | — | likely benign |
| rs1206419369 | 14:100,795,959 | C/T | — | uncertain significance |
| rs7143218 | 14:100,797,255 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.