Product Details

SNP ID
rs137890258
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:73058284 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGAGCATAACCAGTAGAGAACAA[C/T]TGACTATAAAGAGAAGACATAAATG
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_001297732.1 949 Missense Mutation ATT,GTT I279V NP_001284661.1
NM_001297733.1 949 Missense Mutation ATT,GTT I127V NP_001284662.1
NM_001300729.1 949 Missense Mutation ATT,GTT I281V NP_001287658.1
NM_173827.3 949 Missense Mutation ATT,GTT I278V NP_776188.1
XM_005265680.4 949 Missense Mutation AAT,AGT N280S XP_005265737.1
XM_011531878.2 949 Missense Mutation ATT,GTT I128V XP_011530180.1
XM_017008045.1 949 Missense Mutation AAT,AGT N279S XP_016863534.1

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