Product Details

SNP ID

rs56083906

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40692285 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGAGGTCCTGTATGCGGCGGGCC[A/G]TTTCCCCCGACCCAAAGTCATAAGG

Phenotype

MIM: 615567 MIM: 604018

Polymorphism

A/G, Transition 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	1687	Missense Mutation	ACG,ATG	T421M	NP_001136027.1
NM_024876.3	1687	Missense Mutation	ACG,ATG	T462M	NP_079152.3

Gene

NUMBL

Gene Name

NUMB like, endocytic adaptor protein

There are no transcripts associated with this gene.

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