Product Details

SNP ID

rs144989590

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:15053488 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCTTCTCTTGGCCCCAGGAGAAA[C/T]ATGATATGTCAGGTGCCCGCCTGGC

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	246	Missense Mutation	CAT,TAT	H12Y	NP_036246.1
XM_011527861.1	246	Missense Mutation	CAT,TAT	H12Y	XP_011526163.1

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