UQCC1
ubiquinol-cytochrome c reductase complex assembly factor 1
Summary
This gene encodes a transmembrane protein that is structurally similar to the mouse basic fibroblast growth factor repressed ZIC-binding protein. In mouse this protein may be involved in fibroblast growth factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1173654412 | 20:33,891,749 | C/G | — | uncertain significance |
| rs774522983 | 20:33,891,792 | A/C | — | uncertain significance |
| rs2515713917 | 20:33,891,808 | G/T | — | uncertain significance |
| rs758063109 | 20:33,891,853 | A/C | — | uncertain significance |
| rs374998402 | 20:33,891,854 | T/G | — | uncertain significance |
| rs537377895 | 20:33,891,859 | T/C | — | uncertain significance |
| rs878639 | 20:33,894,463 | A/G | splice region variant | — |
| rs532614890 | 20:33,894,504 | G/A | — | uncertain significance |
| rs371771638 | 20:33,894,527 | T/C | — | uncertain significance |
| rs377267838 | 20:33,894,560 | C/T | — | uncertain significance |
| rs141927043 | 20:33,899,115 | G/A | intron variant | — |
| rs2515748313 | 20:33,902,511 | C/T | — | uncertain significance |
| rs1445243220 | 20:33,902,514 | C/A | — | uncertain significance |
| rs777464158 | 20:33,902,549 | T/C | — | uncertain significance |
| rs199898677 | 20:33,902,552 | A/T | — | uncertain significance |
| rs6060369 | 20:33,907,161 | T/C | regulatory region variant | — |
| rs6088792 | 20:33,909,784 | C/T | intron variant | — |
| rs56892901 | 20:33,910,871 | T/C | intron variant | — |
| rs2425059 | 20:33,912,371 | T/C | intron variant | — |
| rs6060371 | 20:33,913,322 | G/T | intron variant | — |
| rs6060373 | 20:33,914,208 | A/G | regulatory region variant | — |
| rs2425061 | 20:33,915,571 | A/C | — | — |
| rs981819 | 20:33,924,112 | C/T | intron variant | — |
| rs2248393 | 20:33,926,103 | C/G | intron variant | — |
| rs140907193 | 20:33,934,989 | T/C | — | uncertain significance |
| rs143345851 | 20:33,935,044 | G/A | — | uncertain significance |
| rs6142351 | 20:33,936,338 | G/A | intron variant | — |
| rs62211527 | 20:33,940,862 | A/C | — | — |
| rs6088801 | 20:33,942,261 | G/T | — | — |
| rs4911492 | 20:33,951,799 | G/C | — | — |
| rs568259398 | 20:33,959,147 | G/T | — | — |
| rs6142360 | 20:33,960,486 | T/A | — | — |
| rs117968629 | 20:33,964,812 | C/T | intron variant | — |
| rs725908 | 20:33,968,067 | T/C | intron variant | — |
| rs1468892145 | 20:33,969,762 | C/T | — | uncertain significance |
| rs6142367 | 20:33,970,527 | A/G | intron variant | — |
| rs187841461 | 20:33,971,842 | T/A | — | uncertain significance |
| rs4911494 | 20:33,971,914 | C/T | missense variant | benign |
| rs4911180 | 20:33,972,948 | G/A | intron variant | — |
| rs6088813 | 20:33,975,181 | C/T | — | — |
| rs1019129354 | 20:33,981,915 | C/A | — | uncertain significance |
| rs1204656 | 20:33,982,846 | G/A | intron variant | — |
| rs1886693 | 20:33,986,566 | G/C | — | — |
| rs376923013 | 20:33,999,754 | C/A | — | uncertain significance |
| rs747367134 | 20:33,999,762 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.