Product Details

SNP ID
rs112847497
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:99369804 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTTATAGAGCATTCCTACCACTGT[C/T]TGAACTGACAGACCATCTGAAAAAA
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_017421.3 933 Silent Mutation CAA,CAG Q302Q NP_059117.3
XM_005267018.4 933 Silent Mutation CAA,CAG Q221Q XP_005267075.1
XM_006715500.3 933 Silent Mutation CAA,CAG Q343Q XP_006715563.1
XM_011535898.2 933 Silent Mutation CAA,CAG Q262Q XP_011534200.1
XM_011535899.1 933 Silent Mutation CAA,CAG Q183Q XP_011534201.1
XM_017010933.1 933 Silent Mutation CAA,CAG Q183Q XP_016866422.1

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