Product Details

SNP ID
rs142250639
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:103571675 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTGCCATGATTGGATAGGACCCC[A/C]AGATAAATATTCAAACCTTCGACCT
Phenotype
MIM: 616003 MIM: 603885
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
APOPT1 PubMed Links

Gene Details

Gene
APOPT1
Gene Name
apoptogenic 1, mitochondrial
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001302652.1 221 Missense Mutation CAA,CCA Q72P NP_001289581.1
NM_001302653.1 221 Missense Mutation CAA,CCA Q72P NP_001289582.1
NM_001302654.1 221 Missense Mutation CAA,CCA Q72P NP_001289583.1
NM_032374.4 221 Missense Mutation CAA,CCA Q72P NP_115750.2
Gene
BAG5
Gene Name
BCL2 associated athanogene 5
There are no transcripts associated with this gene.

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