Product Details

SNP ID
rs142687869
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49665940 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCACCCAGCGTTCCGCCCTTTCT[A/T]CGCTGGGCCGGTTATCGACCCGGCC
Phenotype
MIM: 610837 MIM: 603734
Polymorphism
A/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_001040668.1 799 Silent Mutation CTA,CTT L39L NP_001035758.1
NM_001282516.1 799 Silent Mutation CTA,CTT L39L NP_001269445.1
NM_001282517.1 799 Silent Mutation CTA,CTT L39L NP_001269446.1
NM_001282519.1 799 Silent Mutation CTA,CTT L39L NP_001269448.1
NM_001282520.1 799 Silent Mutation CTA,CTT L39L NP_001269449.1
NM_001282521.1 799 Silent Mutation CTA,CTT L39L NP_001269450.1
NM_138639.1 799 Silent Mutation CTA,CTT L39L NP_619580.1
XM_017027345.1 799 Silent Mutation CTA,CTT L39L XP_016882834.1
XM_017027346.1 799 Silent Mutation CTA,CTT L39L 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_001197122.1 799 Intron NP_001184051.1
NM_001197123.1 799 Intron NP_001184052.1
NM_001197124.1 799 Intron NP_001184053.1
NM_001197125.1 799 Intron NP_001184054.1
NM_001197126.1 799 Intron NP_001184055.1
NM_001197127.1 799 Intron NP_001184056.1
NM_001197128.1 799 Intron NP_001184057.1
NM_001571.5 799 Intron NP_001562.1
XM_006723197.1 799 Intron XP_006723260.1
XM_006723198.1 799 Intron XP_006723261.1
XM_006723200.1 799 Intron XP_006723263.1
XM_006723201.1 799 Intron XP_006723264.1
XM_006723202.2 799 Intron XP_006723265.1
XM_017026766.1 799 Intron XP_016882255.1
XM_017026767.1 799 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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