Product Details

SNP ID
rs78186439
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49665877 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTATGCCCTTTTTTGGGTTTCCG[G/T]CCAGAGGCATGCTGGGAGCGTCACA
Phenotype
MIM: 610837 MIM: 603734
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
BCL2L12 PubMed Links

Gene Details

Gene
BCL2L12
Gene Name
BCL2 like 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001040668.1 736 Silent Mutation CGG,CGT R18R NP_001035758.1
NM_001282516.1 736 Silent Mutation CGG,CGT R18R NP_001269445.1
NM_001282517.1 736 Silent Mutation CGG,CGT R18R NP_001269446.1
NM_001282519.1 736 Silent Mutation CGG,CGT R18R NP_001269448.1
NM_001282520.1 736 Silent Mutation CGG,CGT R18R NP_001269449.1
NM_001282521.1 736 Silent Mutation CGG,CGT R18R NP_001269450.1
NM_138639.1 736 Silent Mutation CGG,CGT R18R NP_619580.1
XM_017027345.1 736 Silent Mutation CGG,CGT R18R XP_016882834.1
XM_017027346.1 736 Silent Mutation CGG,CGT R18R XP_016882835.1
Gene
IRF3
Gene Name
interferon regulatory factor 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001197122.1 736 Intron NP_001184051.1
NM_001197123.1 736 Intron NP_001184052.1
NM_001197124.1 736 Intron NP_001184053.1
NM_001197125.1 736 Intron NP_001184054.1
NM_001197126.1 736 Intron NP_001184055.1
NM_001197127.1 736 Intron NP_001184056.1
NM_001197128.1 736 Intron NP_001184057.1
NM_001571.5 736 Intron NP_001562.1
XM_006723197.1 736 Intron XP_006723260.1
XM_006723198.1 736 Intron XP_006723261.1
XM_006723200.1 736 Intron XP_006723263.1
XM_006723201.1 736 Intron XP_006723264.1
XM_006723202.2 736 Intron XP_006723265.1
XM_017026766.1 736 Intron XP_016882255.1
XM_017026767.1 736 Intron XP_016882256.1
Gene
SCAF1
Gene Name
SR-related CTD associated factor 1
There are no transcripts associated with this gene.

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