SLC25A16
solute carrier family 25 member 16
Summary
This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008]
Known Variants24 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs58790726 | 10:70,240,379 | G/C | 3 prime UTR variant | — |
| rs145361228 | 10:70,243,254 | T/G | — | uncertain significance |
| rs756829211 | 10:70,243,283 | C/T | — | uncertain significance |
| rs375316109 | 10:70,243,300 | A/C | — | uncertain significance |
| rs369908710 | 10:70,243,316 | T/C | — | uncertain significance |
| rs760504060 | 10:70,243,337 | C/T | — | uncertain significance |
| rs370997821 | 10:70,246,946 | C/T | — | uncertain significance |
| rs982912048 | 10:70,246,949 | C/T | — | uncertain significance |
| rs869312864 | 10:70,246,950 | G/A | missense variant | pathogenic |
| rs769671272 | 10:70,248,225 | A/G | — | uncertain significance |
| rs920179637 | 10:70,248,240 | T/C | — | uncertain significance |
| rs907273259 | 10:70,248,314 | G/A | — | uncertain significance |
| rs142688163 | 10:70,249,301 | A/G | intron variant | — |
| rs746161078 | 10:70,253,280 | G/A | — | uncertain significance |
| rs2394476 | 10:70,255,832 | G/T | upstream gene variant | — |
| rs764758123 | 10:70,266,347 | T/C | — | uncertain significance |
| rs2492048078 | 10:70,266,412 | T/C | — | uncertain significance |
| rs569410606 | 10:70,267,080 | G/A | — | — |
| rs1256460455 | 10:70,276,522 | T/A | — | uncertain significance |
| rs150691560 | 10:70,276,553 | C/G | — | uncertain significance |
| rs745483454 | 10:70,287,029 | T/C | — | uncertain significance |
| rs771745123 | 10:70,287,041 | C/A | — | conflicting classifications of pathogenicity |
| rs1007616671 | 10:70,287,090 | G/A | — | uncertain significance |
| rs3740591 | 10:70,287,303 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.