SCO2

synthesis of cytochrome C oxidase 2

Summary

Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]

Known Variants280 total

rsidPosition (GRCh37)AllelesClassClinVar
rs278222:50,961,854T/C—benign
rs98514846522:50,962,041C/G—conflicting classifications of pathogenicity
rs74665985722:50,962,045A/G—uncertain significance
rs116358987622:50,962,046C/T—likely benign
rs214867060322:50,962,051C/T—uncertain significance
rs77901010722:50,962,052A/G—likely benign
rs20073782622:50,962,053C/T—uncertain significance
rs74818087022:50,962,054T/C—uncertain significance
rs76561829622:50,962,056C/T—uncertain significance
rs20117494822:50,962,057G/A—uncertain significance
rs156952143622:50,962,061A/G—likely benign
rs37563232222:50,962,064C/T—likely benign
rs214867065122:50,962,066C/T—uncertain significance
rs135287828322:50,962,068A/G—uncertain significance
rs214867066622:50,962,073C/T—likely benign
rs37045017122:50,962,074C/T—conflicting classifications of pathogenicity
rs36890838322:50,962,077C/T—uncertain significance
rs11279329222:50,962,078G/T—conflicting classifications of pathogenicity
rs75823013622:50,962,079C/T—likely benign
rs128939271222:50,962,082A/G—likely benign
rs77981013722:50,962,085G/C—uncertain significance
rs214867071922:50,962,088T/C—likely benign
rs76822880422:50,962,089G/A—conflicting classifications of pathogenicity
rs78078325722:50,962,094C/G—uncertain significance
rs76932131822:50,962,099C/T—uncertain significance
rs19984579322:50,962,100A/C—likely benign
rs20060504222:50,962,103C/G—conflicting classifications of pathogenicity
rs13900362822:50,962,104G/A—uncertain significance
rs76780967022:50,962,113C/T—uncertain significance
rs76071720822:50,962,114G/A—uncertain significance
rs252246539422:50,962,115G/A—likely benign
rs20061053422:50,962,117C/T—uncertain significance
rs37534504422:50,962,118G/A—conflicting classifications of pathogenicity
rs75464451322:50,962,127C/T—likely benign
rs14943976022:50,962,128G/A—uncertain significance
rs252246559622:50,962,130G/A—likely benign
rs252246560422:50,962,133G/C—likely benign
rs76925038322:50,962,134A/Gmissense variant—
rs132254924422:50,962,136G/T—likely benign
rs77732717622:50,962,138C/T—uncertain significance
rs11318576322:50,962,139G/A—likely benign
rs77150150122:50,962,142A/G—likely benign
rs88604356622:50,962,144G/C—uncertain significance
rs206919099022:50,962,151C/G—likely benign
rs14209314522:50,962,154G/A—likely benign
rs252246591022:50,962,155T/C—uncertain significance
rs252246594122:50,962,157G/A—likely benign
rs77254474022:50,962,158A/G—uncertain significance
rs252246600622:50,962,162C/T—uncertain significance
rs8035823222:50,962,167G/Cmissense variantuncertain significance
rs76094770022:50,962,170T/C—uncertain significance
rs252246617322:50,962,172G/T—uncertain significance
rs76409344122:50,962,177C/T—uncertain significance
rs143759770322:50,962,181G/A—likely benign
rs147702645722:50,962,182T/C—uncertain significance
rs117322851422:50,962,185T/C—uncertain significance
rs206919309922:50,962,186C/T—uncertain significance
rs56154381722:50,962,196A/G—likely benign
rs75147360122:50,962,198C/T—uncertain significance
rs252246663922:50,962,202G/A—likely benign
rs130334159422:50,962,206C/T—uncertain significance
rs1214822:50,962,208T/A—likely benign
rs214867102022:50,962,219A/C—uncertain significance
rs36871910022:50,962,222C/T—uncertain significance
rs55051279622:50,962,223G/A—likely benign
rs77715460422:50,962,224C/T—uncertain significance
rs74877040322:50,962,225G/A—uncertain significance
rs19964411122:50,962,230C/T—uncertain significance
rs118865774422:50,962,233T/C—uncertain significance
rs252246734722:50,962,237T/C—uncertain significance
rs74634630222:50,962,239G/A—uncertain significance
rs77238558822:50,962,240C/T—uncertain significance
rs252246742322:50,962,242T/C—uncertain significance
rs155648311422:50,962,244G/T—likely benign
rs74720017522:50,962,248A/G—uncertain significance
rs138438179422:50,962,255T/G—uncertain significance
rs77433516622:50,962,262G/A—likely benign
rs75945207422:50,962,264C/T—pathogenic
rs20190907522:50,962,265G/A—conflicting classifications of pathogenicity
rs75247380322:50,962,277C/G—likely benign
rs252246809922:50,962,279G/A—likely benign
rs214867116122:50,962,280T/C—likely benign
rs90573947022:50,962,282T/C—uncertain significance
rs252246817222:50,962,284G/C—uncertain significance
rs76375614322:50,962,286G/A—likely benign
rs121814853922:50,962,288G/A—uncertain significance
rs206919949322:50,962,292G/A—likely benign
rs20035421122:50,962,297G/A—pathogenic
rs124548825622:50,962,298G/C—likely benign
rs14762468122:50,962,300C/T—uncertain significance
rs37579552722:50,962,301G/A—likely benign
rs14223952722:50,962,304G/C—likely benign
rs14975071522:50,962,305C/T—uncertain significance
rs78031425522:50,962,306G/Amissense variantuncertain significance
rs74734861322:50,962,308G/A—uncertain significance
rs56608782422:50,962,314G/A—uncertain significance
rs252246873622:50,962,316T/C—likely benign
rs160344164922:50,962,319A/G—likely benign
rs37022983522:50,962,320A/G—uncertain significance
rs74836276422:50,962,321C/T—uncertain significance

Showing 100 of 280 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.