Product Details

SNP ID
rs201710972
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:15493035 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTTCACCGAAACAGCATTAGCGA[C/T]CTGTAAGACATGACCATGGAGAGCT
Phenotype
MIM: 602234 MIM: 609444
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CASP9 PubMed Links

Gene Details

Gene
CASP9
Gene Name
caspase 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001229.4 954 Missense Mutation ATC,GTC I387V NP_001220.2
NM_001278054.1 954 Missense Mutation ATC,GTC I237V NP_001264983.1
NM_032996.3 954 Missense Mutation ATC,GTC I304V NP_127463.2
XM_005246014.2 954 Missense Mutation ATC,GTC I304V XP_005246071.1
XM_011542273.2 954 Intron XP_011540575.1
Gene
CELA2B
Gene Name
chymotrypsin like elastase family member 2B
There are no transcripts associated with this gene.

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