Product Details

SNP ID

rs201787202

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40717890 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATATACTGATGGCTCCCAGAAAA[A/C]ACAGGATACTGAAGCAGCCAGGAAA

Phenotype

MIM: 615567 MIM: 606476

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

COQ8B PubMed Links

Gene Details

Gene

COQ8B

Gene Name

coenzyme Q8B

There are no transcripts associated with this gene.

Gene

ITPKC

Gene Name

inositol-trisphosphate 3-kinase C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025194.2	16	Missense Mutation	AAA,ACA	K252T	NP_079470.1
XM_017027324.1	16	Missense Mutation	AAC,CAC	N6H	XP_016882813.1

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