Product Details

SNP ID

rs148218929

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40717985 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTGGACACAACCTAGCACTGAC[A/G]GTTCCCAGACAGCACCTGGGACAGA

Phenotype

MIM: 615567 MIM: 606476

Polymorphism

A/G, Transition 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	111	Missense Mutation	AGT,GGT	S284G	NP_079470.1
XM_017027324.1	111	Silent Mutation	ACA,ACG	T37T	XP_016882813.1

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