Product Details

SNP ID
rs148273048
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:99369795 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGAGAAGGGGTTATAGAGCATTCC[C/T]ACCACTGTTTGAACTGACAGACCAT
Phenotype
MIM: 605196
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COQ3 PubMed Links

Gene Details

Gene
COQ3
Gene Name
coenzyme Q3, methyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_017421.3 942 Silent Mutation GTA,GTG V305V NP_059117.3
XM_005267018.4 942 Silent Mutation GTA,GTG V224V XP_005267075.1
XM_006715500.3 942 Silent Mutation GTA,GTG V346V XP_006715563.1
XM_011535898.2 942 Silent Mutation GTA,GTG V265V XP_011534200.1
XM_011535899.1 942 Silent Mutation GTA,GTG V186V XP_011534201.1
XM_017010933.1 942 Silent Mutation GTA,GTG V186V XP_016866422.1

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