Product Details

SNP ID

rs200814186

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:56270166 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTCCCAGATTTCCTTTGAATTTC[A/G]TTCTCTGCTGCACTCCCAGCTGGCC

Phenotype

MIM: 118950

Polymorphism

A/G, 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	854	Missense Mutation	CAT,CGT	H166R	NP_001092807.1
NM_144576.3	854	Missense Mutation	CAT,CGT	H198R	NP_653177.3

Gene

CS

Gene Name

citrate synthase

There are no transcripts associated with this gene.

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