SCO1

synthesis of cytochrome C oxidase 1

Summary

Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]

Known Variants182 total

rsidPosition (GRCh37)AllelesClassClinVar
rs101991450817:10,583,705T/C—uncertain significance
rs751217:10,583,714G/C—benign
rs18302027517:10,583,842T/C—uncertain significance
rs207461539417:10,583,910A/G—uncertain significance
rs88605259217:10,584,033T/C—uncertain significance
rs15127953317:10,584,087G/C—uncertain significance
rs95902475617:10,584,110G/A—uncertain significance
rs204057017:10,584,116C/T—benign
rs266295717:10,584,126G/A—likely benign
rs88605259317:10,584,151G/A—uncertain significance
rs266295617:10,584,164A/G—likely benign
rs7646513317:10,584,166A/T—likely benign
rs77908208217:10,584,309T/C—uncertain significance
rs14053853217:10,584,355T/C—uncertain significance
rs133870210617:10,584,356T/C—uncertain significance
rs88605259417:10,584,375T/G—uncertain significance
rs11408293417:10,584,418C/T—likely benign
rs77517641217:10,584,461A/T—uncertain significance
rs13977107817:10,584,474T/C—conflicting classifications of pathogenicity
rs75273791817:10,584,492C/T—uncertain significance
rs75621111017:10,584,494T/C—uncertain significance
rs146995674517:10,584,507G/A—uncertain significance
rs250784525217:10,584,518T/C—uncertain significance
rs130027610917:10,584,536G/A—uncertain significance
rs55457671217:10,584,538T/C—likely benign
rs139765160917:10,584,544C/G—uncertain significance
rs11170886017:10,584,555T/C—uncertain significance
rs78016270617:10,584,575A/G—likely benign
rs145669734817:10,584,576G/A—likely benign
rs252019517:10,584,720C/T—benign
rs13844577517:10,589,725C/T—likely benign
rs11340651317:10,589,939T/C—benign
rs37623747717:10,590,041C/G—uncertain significance
rs123442780317:10,590,046T/G—not provided
rs215145420517:10,590,053T/A—uncertain significance
rs140314835017:10,590,057T/C—uncertain significance
rs15111259417:10,590,062G/A—likely benign
rs98794704117:10,590,065C/T—likely benign
rs133962520917:10,590,067T/C—uncertain significance
rs119383919417:10,590,070G/A—uncertain significance
rs76827013617:10,590,071G/A—likely benign
rs19966619317:10,590,075G/A—uncertain significance
rs74617564917:10,590,086C/T—likely benign
rs76121769617:10,590,091T/G—uncertain significance
rs144797873117:10,590,093T/C—uncertain significance
rs76404598617:10,590,112C/T—uncertain significance
rs19968783117:10,590,113G/A—likely benign
rs77348275017:10,590,125C/A—likely benign
rs14106687717:10,590,126G/A—uncertain significance
rs88605259517:10,590,142C/T—uncertain significance
rs75067721217:10,590,143C/T—likely benign
rs75826144417:10,590,145G/C—uncertain significance
rs37594036217:10,590,179G/C—likely benign
rs14258487117:10,590,382G/A—likely benign
rs266295017:10,590,443G/A—benign
rs266294917:10,590,463C/G—benign
rs225473017:10,595,024C/T—benign
rs252017917:10,595,057C/T—benign
rs227122917:10,595,152A/C—likely benign
rs77855642817:10,595,173T/C—likely benign
rs105388321517:10,595,178T/A—likely benign
rs250785518517:10,595,190T/C—uncertain significance
rs116136276517:10,595,195C/A—uncertain significance
rs140848360817:10,595,196A/G—likely benign
rs14576482417:10,595,204C/T—uncertain significance
rs129616503017:10,595,207T/C—uncertain significance
rs36984774717:10,595,216T/G—uncertain significance
rs77473075417:10,595,224C/Tmissense variantpathogenic
rs250785526817:10,595,232G/A—likely benign
rs227122817:10,595,250T/C—likely benign
rs37614574617:10,595,265C/A—conflicting classifications of pathogenicity
rs215145666117:10,595,270T/C—uncertain significance
rs207469275417:10,595,271T/C—likely benign
rs252017817:10,595,388A/G—benign
rs266294317:10,595,391G/A—benign
rs266294217:10,595,398G/A—benign
rs266294117:10,595,422G/A—benign
rs252017717:10,595,955C/T—likely benign
rs75656297117:10,596,072C/T—likely benign
rs76645417517:10,596,092——pathogenic
rs14703972117:10,596,093C/T—uncertain significance
rs77918752417:10,596,094G/A—likely benign
rs77213232017:10,596,112T/C—likely benign
rs10489463017:10,596,122G/Amissense variantpathogenic
rs215145702317:10,596,128A/C—uncertain significance
rs131653490617:10,596,131T/G—uncertain significance
rs250785647217:10,596,169C/T—likely benign
rs76254859817:10,596,198G/A—uncertain significance
rs53338577517:10,596,201C/A—uncertain significance
rs207469846417:10,596,210G/A—uncertain significance
rs36809800217:10,596,213T/C—uncertain significance
rs37169030117:10,596,232C/T—conflicting classifications of pathogenicity
rs105752250117:10,596,247G/C—likely benign
rs58777722017:10,596,249C/Tmissense variantpathogenic
rs77840699517:10,596,250G/A—uncertain significance
rs120585780717:10,596,253G/C—uncertain significance
rs54111872617:10,596,257C/T—uncertain significance
rs119922440017:10,596,258G/A—pathogenic
rs19981583117:10,596,263C/T—uncertain significance
rs989764117:10,596,380G/A—benign

Showing 100 of 182 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.