Product Details

SNP ID
rs201635146
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:15052262 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAACCAAAGGAGAAATGAGCAATC[C/T]GCGGTCTTTGGAAGAGGTAGGCTGG
Phenotype
MIM: 605848
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CASP14 PubMed Links

Gene Details

Gene
CASP14
Gene Name
caspase 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012114.2 223 Missense Mutation CCG,CTG P4L NP_036246.1
XM_011527861.1 223 Missense Mutation CCG,CTG P4L XP_011526163.1

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