Product Details

SNP ID
rs145344531
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:105026322 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACTCTTTCAGTGGTGGGCATCTGC[A/G]CTCTACCATCTGGCTGCTCAAATGA
Phenotype
MIM: 147678 MIM: 602665
Polymorphism
A/G, Transition 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 1132 Missense Mutation GCG,GTG A363V NP_001214.1
NM_001257118.2 1132 Missense Mutation GCG,GTG A384V NP_001244047.1
NM_001257119.2 1132 Missense Mutation GCG,GTG A363V NP_001244048.1
NM_033292.3 1132 Missense Mutation GCG,GTG A384V NP_150634.1
NM_033293.3 1132 Missense Mutation GCG,GTG A291V NP_150635.1
NM_033294.3 1132 Missense Mutation GCG,GTG A243V NP_150636.1
NM_033295.3 1132 Missense Mutation GCG,GTG A68V NP_150637.1
XM_017018393.1 1132 Missense Mutation GCG,GTG A381V XP_016873882.1
XM_017018394.1 1132 Missense Mutation GCG,GTG A381V XP_016873883.1
XM_017018395.1 1132 Missense Mutation GCG,GTG A360V XP_016873884.1
XM_017018396.1 1132 Missense Mutation GCG,GTG A354V XP_016873885.1
Gene
CASP5
Gene Name
caspase 5
There are no transcripts associated with this gene.

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