Product Details

SNP ID
rs147609954
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:99369637 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTTCATGCACAGCTGGATTGGTG[C/T]AGGCATTAGCTTGGAGCTCTTCTGT
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 1100 Missense Mutation TAC,TGC Y358C NP_059117.3
XM_005267018.4 1100 Missense Mutation TAC,TGC Y277C XP_005267075.1
XM_006715500.3 1100 Missense Mutation TAC,TGC Y399C XP_006715563.1
XM_011535898.2 1100 Missense Mutation TAC,TGC Y318C XP_011534200.1
XM_011535899.1 1100 Missense Mutation TAC,TGC Y239C XP_011534201.1
XM_017010933.1 1100 Missense Mutation TAC,TGC Y239C XP_016866422.1

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