Product Details

SNP ID
rs111412479
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:73061828 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTACTCACTGAGGGTACCGTTGC[A/G]GCAATTGGTATCATCAACACCGACA
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_001297732.1 926 Silent Mutation GCC,GCT A272A NP_001284661.1
NM_001297733.1 926 Silent Mutation GCC,GCT A120A NP_001284662.1
NM_001300729.1 926 Silent Mutation GCC,GCT A274A NP_001287658.1
NM_173827.3 926 Silent Mutation GCC,GCT A271A NP_776188.1
XM_005265680.4 926 Silent Mutation GCC,GCT A272A XP_005265737.1
XM_011531878.2 926 Silent Mutation GCC,GCT A121A XP_011530180.1
XM_017008045.1 926 Silent Mutation GCC,GCT A271A XP_016863534.1

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