Product Details

SNP ID

rs200743459

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40693018 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCAGGACACAGTCTCTGTCTCCA[A/T]CAGCTGCAGCCTTCACCACCTGGGG

Phenotype

MIM: 615567 MIM: 604018

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

COQ8B PubMed Links

Gene Details

Gene

COQ8B

Gene Name

coenzyme Q8B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142555.2	1531	Missense Mutation	GAT,GTT	D369V	NP_001136027.1
NM_024876.3	1531	Missense Mutation	GAT,GTT	D410V	NP_079152.3

Gene

NUMBL

Gene Name

NUMB like, endocytic adaptor protein

There are no transcripts associated with this gene.

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