Product Details

SNP ID
rs201251329
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:73058254 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCAGCAAATTCTGTGAAAGGCCCA[C/T]GAAGCTGGAGCATAACCAGTAGAGA
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_001297732.1 979 Missense Mutation ATG,GTG M289V NP_001284661.1
NM_001297733.1 979 Missense Mutation ATG,GTG M137V NP_001284662.1
NM_001300729.1 979 Missense Mutation ATG,GTG M291V NP_001287658.1
NM_173827.3 979 Missense Mutation ATG,GTG M288V NP_776188.1
XM_005265680.4 979 Missense Mutation CAT,CGT H290R XP_005265737.1
XM_011531878.2 979 Missense Mutation ATG,GTG M138V XP_011530180.1
XM_017008045.1 979 Missense Mutation CAT,CGT H289R XP_016863534.1

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