Product Details

SNP ID
rs150511039
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:105026931 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAATAAAAACAGAGCCCATTGTGG[G/T]ATGTCTCCAAGAAACATTATCTATG
Phenotype
MIM: 147678 MIM: 602665
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
CASP1 PubMed Links

Gene Details

Gene
CASP1
Gene Name
caspase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001223.4 1008 Missense Mutation ACC,CCC T322P NP_001214.1
NM_001257118.2 1008 Missense Mutation ACC,CCC T343P NP_001244047.1
NM_001257119.2 1008 Missense Mutation ACC,CCC T322P NP_001244048.1
NM_033292.3 1008 Missense Mutation ACC,CCC T343P NP_150634.1
NM_033293.3 1008 Missense Mutation ACC,CCC T250P NP_150635.1
NM_033294.3 1008 Missense Mutation ACC,CCC T202P NP_150636.1
NM_033295.3 1008 Missense Mutation ACC,CCC T27P NP_150637.1
XM_017018393.1 1008 Missense Mutation ACC,CCC T340P XP_016873882.1
XM_017018394.1 1008 Missense Mutation ACC,CCC T340P XP_016873883.1
XM_017018395.1 1008 Missense Mutation ACC,CCC T319P XP_016873884.1
XM_017018396.1 1008 Missense Mutation ACC,CCC T313P XP_016873885.1
Gene
CASP5
Gene Name
caspase 5
There are no transcripts associated with this gene.

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