Product Details

SNP ID

rs142420160

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40692323 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAAGTCATAAGGGCCCTGGGTGGC[A/G]AAAGGCTCCCCCAGGATCATCACTG

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	1649	Silent Mutation	TTC,TTT	F408F	NP_001136027.1
NM_024876.3	1649	Silent Mutation	TTC,TTT	F449F	NP_079152.3

Gene

NUMBL

Gene Name

NUMB like, endocytic adaptor protein

There are no transcripts associated with this gene.

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