Product Details

SNP ID

rs147396237

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:15053503 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGAGAAATATGATATGTCAGGT[G/T]CCCGCCTGGCCCTAATACTGTGTGT

Phenotype

MIM: 605848

Polymorphism

G/T, Transversion 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	261	Missense Mutation	GCC,TCC	A17S	NP_036246.1
XM_011527861.1	261	Missense Mutation	GCC,TCC	A17S	XP_011526163.1

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