Product Details

SNP ID
rs147471983
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:73061890 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTACGTAATATACGTCTGAAAAC[A/G]AGACATTCCAATTTTTTGTAGAGCA
Phenotype
MIM: 610428
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COX18 PubMed Links

Gene Details

Gene
COX18
Gene Name
COX18, cytochrome c oxidase assembly factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297732.1 864 Missense Mutation CGT,TGT R252C NP_001284661.1
NM_001297733.1 864 Missense Mutation CGT,TGT R100C NP_001284662.1
NM_001300729.1 864 Missense Mutation CGT,TGT R254C NP_001287658.1
NM_173827.3 864 Missense Mutation CGT,TGT R251C NP_776188.1
XM_005265680.4 864 Missense Mutation CGT,TGT R252C XP_005265737.1
XM_011531878.2 864 Missense Mutation CGT,TGT R101C XP_011530180.1
XM_017008045.1 864 Missense Mutation CGT,TGT R251C XP_016863534.1

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