Product Details

SNP ID
rs2118851
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:98645548 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGCCCGTGGGCCGGGCCTCACCG[C/G]GGCGCTCCGGGACTGTGGGGTCAGG
Phenotype
MIM: 602233 MIM: 609861
Polymorphism
C/G, Transversion 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_001160.2 408 UTR 5 NP_001151.1
NM_013229.2 408 UTR 5 NP_037361.1
NM_181861.1 408 UTR 5 NP_863651.1
NM_181868.1 408 UTR 5 NP_863658.1
NM_181869.1 408 UTR 5 NP_863659.1
XM_017019250.1 408 UTR 5 XP_016874739.1
Gene
IKBIP
Gene Name
IKBKB interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_153687.3 408 Intron NP_710154.1
NM_201612.2 408 Intron NP_963906.1
NM_201613.2 408 Intron NP_963907.1

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