Product Details

SNP ID
rs3184994
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:56270264 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GCGTCGGGCAGCCACCAAGTTTGGT[C/T]CAGAAACAGCCATCCCCCGTGAACT
Phenotype
MIM: 118950
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COQ10A PubMed Links

Gene Details

Gene
COQ10A
Gene Name
coenzyme Q10A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001099337.1 952 Missense Mutation CCA,TCA P199S NP_001092807.1
NM_144576.3 952 Missense Mutation CCA,TCA P231S NP_653177.3
Gene
CS
Gene Name
citrate synthase
There are no transcripts associated with this gene.

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