Product Details

SNP ID
rs145229869
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:99371440 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTAATACTTACTTGATTCCAGAA[C/T]GCTCTCTAGTGTTTCAGGTGAAACA
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_017421.3 904 Missense Mutation ATT,GTT I293V NP_059117.3
XM_005267018.4 904 Missense Mutation ATT,GTT I212V XP_005267075.1
XM_006715500.3 904 Missense Mutation ATT,GTT I334V XP_006715563.1
XM_011535898.2 904 Missense Mutation ATT,GTT I253V XP_011534200.1
XM_011535899.1 904 Missense Mutation ATT,GTT I174V XP_011534201.1
XM_017010933.1 904 Missense Mutation ATT,GTT I174V XP_016866422.1

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