Product Details

SNP ID
rs145226502
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:98648493 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATATCAGAAGAGGAAAAAGTAAGAA[A/G]TGAGGTAAAGCTCTCTGAAGCAGTC
Phenotype
MIM: 602233 MIM: 609861
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
APAF1 PubMed Links

Gene Details

Gene
APAF1
Gene Name
apoptotic peptidase activating factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001160.2 870 Missense Mutation AAT,AGT N45S NP_001151.1
NM_013229.2 870 Missense Mutation AAT,AGT N45S NP_037361.1
NM_181861.1 870 Missense Mutation AAT,AGT N45S NP_863651.1
NM_181868.1 870 Missense Mutation AAT,AGT N45S NP_863658.1
NM_181869.1 870 Missense Mutation AAT,AGT N45S NP_863659.1
XM_017019250.1 870 Missense Mutation AAT,AGT N45S XP_016874739.1
Gene
IKBIP
Gene Name
IKBKB interacting protein
There are no transcripts associated with this gene.

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