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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