Product Details

SNP ID
rs201601111
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:201186102 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAAGTGGAGCGACTGCTGCCCACC[C/T]GACAAAGGGTTTCTCTGTTTAGGTG
Phenotype
MIM: 601762
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CASP10 PubMed Links

Gene Details

Gene
CASP10
Gene Name
caspase 10
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206524.1 743 Missense Mutation CGA,TGA R109* NP_001193453.1
NM_001206542.1 743 Missense Mutation CGA,TGA R109* NP_001193471.1
NM_001230.4 743 Missense Mutation CGA,TGA R109* NP_001221.2
NM_001306083.1 743 Missense Mutation CGA,TGA R109* NP_001293012.1
NM_032974.4 743 Missense Mutation CGA,TGA R109* NP_116756.2
NM_032976.3 743 Missense Mutation CGA,TGA R109* NP_116758.1
NM_032977.3 743 Missense Mutation CGA,TGA R109* NP_116759.2
XM_005246907.2 743 Nonsense Mutation CGA,TGA R109* XP_005246964.1
XM_006712796.3 743 UTR 5 XP_006712859.1
XM_011511990.2 743 Nonsense Mutation CGA,TGA R109* XP_011510292.1

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