Product Details

SNP ID

rs201107148

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:56270183 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAATTTCGTTCTCTGCTGCACTCC[C/T]AGCTGGCCACCATGTTTTTTGATGA

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	871	Nonsense Mutation	CAG,TAG	Q172*	NP_001092807.1
NM_144576.3	871	Nonsense Mutation	CAG,TAG	Q204*	NP_653177.3

Gene

CS

Gene Name

citrate synthase

There are no transcripts associated with this gene.

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