Product Details

SNP ID
rs148185263
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49665949 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGTTCCGCCCTTTCTACGCTGGGC[C/T]GGTTATCGACCCGGCCCAGTGCGCA
Phenotype
MIM: 610837 MIM: 603734
Polymorphism
C/T, Transition 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_001040668.1 808 Silent Mutation GCC,GCT A42A NP_001035758.1
NM_001282516.1 808 Silent Mutation GCC,GCT A42A NP_001269445.1
NM_001282517.1 808 Silent Mutation GCC,GCT A42A NP_001269446.1
NM_001282519.1 808 Silent Mutation GCC,GCT A42A NP_001269448.1
NM_001282520.1 808 Silent Mutation GCC,GCT A42A NP_001269449.1
NM_001282521.1 808 Silent Mutation GCC,GCT A42A NP_001269450.1
NM_138639.1 808 Silent Mutation GCC,GCT A42A NP_619580.1
XM_017027345.1 808 Silent Mutation GCC,GCT A42A XP_016882834.1
XM_017027346.1 808 Silent Mutation GCC,GCT A42A 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_001197122.1 808 Intron NP_001184051.1
NM_001197123.1 808 Intron NP_001184052.1
NM_001197124.1 808 Intron NP_001184053.1
NM_001197125.1 808 Intron NP_001184054.1
NM_001197126.1 808 Intron NP_001184055.1
NM_001197127.1 808 Intron NP_001184056.1
NM_001197128.1 808 Intron NP_001184057.1
NM_001571.5 808 Intron NP_001562.1
XM_006723197.1 808 Intron XP_006723260.1
XM_006723198.1 808 Intron XP_006723261.1
XM_006723200.1 808 Intron XP_006723263.1
XM_006723201.1 808 Intron XP_006723264.1
XM_006723202.2 808 Intron XP_006723265.1
XM_017026766.1 808 Intron XP_016882255.1
XM_017026767.1 808 Intron XP_016882256.1
Gene
SCAF1
Gene Name
SR-related CTD associated factor 1
There are no transcripts associated with this gene.

View Full Product Details