Product Details

SNP ID
rs185785905
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:73061879 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCACGGACAAAGTACGTAATATA[C/T]GTCTGAAAACGAGACATTCCAATTT
Phenotype
MIM: 610428
Polymorphism
C/T, 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_001297732.1 875 Silent Mutation ACA,ACG T255T NP_001284661.1
NM_001297733.1 875 Silent Mutation ACA,ACG T103T NP_001284662.1
NM_001300729.1 875 Silent Mutation ACA,ACG T257T NP_001287658.1
NM_173827.3 875 Silent Mutation ACA,ACG T254T NP_776188.1
XM_005265680.4 875 Silent Mutation ACA,ACG T255T XP_005265737.1
XM_011531878.2 875 Silent Mutation ACA,ACG T104T XP_011530180.1
XM_017008045.1 875 Silent Mutation ACA,ACG T254T XP_016863534.1

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