Product Details

SNP ID
rs116907701
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:241562459 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCGATGCGTTCCTGGCCGTGGCTG[A/G]CCACATCTTCTCTGCAGGTATGCCC
Phenotype
MIM: 605404
Polymorphism
A/G, 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_032515.4 428 Missense Mutation GAC,GGC D111G NP_115904.1
XM_011511696.2 428 Missense Mutation GAC,GGC D111G XP_011509998.1
XM_011511697.2 428 Missense Mutation GAC,GGC D111G XP_011509999.1
XM_017004775.1 428 Missense Mutation GAC,GGC D33G XP_016860264.1
XM_017004776.1 428 Missense Mutation GAC,GGC D33G XP_016860265.1
Gene
BOK-AS1
Gene Name
BOK antisense RNA 1
There are no transcripts associated with this gene.

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