Product Details

SNP ID
rs146987702
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:241562368 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACAGGCGATGAGCTGGAGATGATC[C/T]GGCCCAGCGTCTACCGCAACGTGGC
Phenotype
MIM: 605404
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BOK PubMed Links

Gene Details

Gene
BOK
Gene Name
BOK, BCL2 family apoptosis regulator
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032515.4 337 Missense Mutation CGG,TGG R81W NP_115904.1
XM_011511696.2 337 Missense Mutation CGG,TGG R81W XP_011509998.1
XM_011511697.2 337 Missense Mutation CGG,TGG R81W XP_011509999.1
XM_017004775.1 337 Missense Mutation CGG,TGG R3W XP_016860264.1
XM_017004776.1 337 Missense Mutation CGG,TGG R3W XP_016860265.1
Gene
BOK-AS1
Gene Name
BOK antisense RNA 1
There are no transcripts associated with this gene.

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