Product Details

SNP ID
rs147519290
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49667056 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAGAGCCAACAGACTTCCTGAGC[C/T]GCCTTCGAAGATGTCTTCCCTGCTC
Phenotype
MIM: 610837 MIM: 603734 MIM: 602950
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 1079 Missense Mutation CGC,TGC R132C NP_001035758.1
NM_001282516.1 1079 Missense Mutation CGC,TGC R133C NP_001269445.1
NM_001282517.1 1079 Intron NP_001269446.1
NM_001282519.1 1079 Missense Mutation CGC,TGC R133C NP_001269448.1
NM_001282520.1 1079 Missense Mutation CGC,TGC R133C NP_001269449.1
NM_001282521.1 1079 Missense Mutation CGC,TGC R133C NP_001269450.1
NM_138639.1 1079 Missense Mutation CGC,TGC R133C NP_619580.1
XM_017027345.1 1079 Missense Mutation CGC,TGC R132C XP_016882834.1
XM_017027346.1 1079 Intron XP_016882835.1
Gene
IRF3
Gene Name
interferon regulatory factor 3
There are no transcripts associated with this gene.

Gene
PRMT1
Gene Name
protein arginine methyltransferase 1
There are no transcripts associated with this gene.

Gene
SCAF1
Gene Name
SR-related CTD associated factor 1
There are no transcripts associated with this gene.

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