Product Details

SNP ID
rs45458695
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:104997445 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTTCTGGAAGCATGTGATGAGTT[C/G]CGTAATGAAGATGGAGCCCCTTGTG
Phenotype
MIM: 602665
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CASP5 PubMed Links

Gene Details

Gene
CASP5
Gene Name
caspase 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136109.1 750 Missense Mutation CAA,GAA Q324E NP_001129581.1
NM_001136110.1 750 Missense Mutation CAA,GAA Q240E NP_001129582.1
NM_001136112.1 750 Missense Mutation CAA,GAA Q395E NP_001129584.1
NM_004347.3 750 Missense Mutation CAA,GAA Q382E NP_004338.3
XM_011543021.2 750 Intron XP_011541323.1

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