Product Details

SNP ID

rs201246862

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:56267404 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGTAGAGCTTTGGATAATGCTTTT[C/G]CAAGTTGTACGAGAAGGGAAGTTCT

Phenotype

MIM: 118950

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ANKRD52 PubMed Links

Gene Details

Gene

ANKRD52

Gene Name

ankyrin repeat domain 52

There are no transcripts associated with this gene.

Gene

COQ10A

Gene Name

coenzyme Q10A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099337.1	122	Missense Mutation	TTC,TTG	F3L	NP_001092807.1
NM_144576.3	122	Intron			NP_653177.3

Gene

CS

Gene Name

citrate synthase

There are no transcripts associated with this gene.

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