Product Details

SNP ID

rs139417609

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:201185953 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCTGGAGAAGTCCAGCTCAGCCT[C/G]AGATGTTTTTGAACATCTCTTGGCA

Phenotype

MIM: 601762

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

CASP10 PubMed Links

Additional Information

For this assay, SNP(s) [rs3900115] are located under a probe 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

CASP10

Gene Name

caspase 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206524.1	594	Nonsense Mutation	TCA,TGA	S59*	NP_001193453.1
NM_001206542.1	594	Nonsense Mutation	TCA,TGA	S59*	NP_001193471.1
NM_001230.4	594	Nonsense Mutation	TCA,TGA	S59*	NP_001221.2
NM_001306083.1	594	Nonsense Mutation	TCA,TGA	S59*	NP_001293012.1
NM_032974.4	594	Nonsense Mutation	TCA,TGA	S59*	NP_116756.2
NM_032976.3	594	Nonsense Mutation	TCA,TGA	S59*	NP_116758.1
NM_032977.3	594	Nonsense Mutation	TCA,TGA	S59*	NP_116759.2
XM_005246907.2	594	Nonsense Mutation	TCA,TGA	S59*	XP_005246964.1
XM_006712796.3	594	UTR 5			XP_006712859.1
XM_011511990.2	594	Nonsense Mutation	TCA,TGA	S59*	XP_011510292.1

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