Product Details

SNP ID
rs138117165
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:34883343 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCTGATTTACACTCACATGGTT[C/T]TGGCCTTCTCCCATGTTTCCCCCCA
Phenotype
MIM: 612491
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
APIP PubMed Links

Gene Details

Gene
APIP
Gene Name
APAF1 interacting protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015957.3 750 Missense Mutation AAA,AGA K208R NP_057041.2
XM_011520154.2 750 Intron XP_011518456.1
XM_017017875.1 750 Intron XP_016873364.1

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