Product Details

SNP ID

rs1052596

Assay Type

Functionally Tested

NCBI dbSNP Submissions

2

Location

Chr.1:15492351 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAACAATTTTTAAAATTTCACTTA[A/G]AATTCATAGATTACAGCTGTTCAGA

Phenotype

MIM: 602234 MIM: 609444

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CASP9 PubMed Links

Additional Information

For this assay, SNP(s) [rs75093591] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CASP9

Gene Name

caspase 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001229.4	1638	UTR 3			NP_001220.2
NM_001278054.1	1638	UTR 3			NP_001264983.1
NM_032996.3	1638	UTR 3			NP_127463.2
XM_005246014.2	1638	UTR 3			XP_005246071.1
XM_011542273.2	1638	Intron			XP_011540575.1

Gene

CELA2B

Gene Name

chymotrypsin like elastase family member 2B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015849.2	1638	Intron			NP_056933.2

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