Product Details

SNP ID

rs139582710

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40693009 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGACTTCTGCAGGACACAGTCT[C/G]TGTCTCCATCAGCTGCAGCCTTCAC

Phenotype

MIM: 615567 MIM: 604018

Polymorphism

C/G, 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	1540	Missense Mutation	ACA,AGA	T372R	NP_001136027.1
NM_024876.3	1540	Missense Mutation	ACA,AGA	T413R	NP_079152.3

Gene

NUMBL

Gene Name

NUMB like, endocytic adaptor protein

There are no transcripts associated with this gene.

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