Product Details

SNP ID

rs149977168

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:15053560 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCCCGGGAAGGTTCCGAAGAAGAC[C/G]TGGATGCTCTGGAACACATGTTTCG

Phenotype

MIM: 605848

Polymorphism

C/G, 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	318	Missense Mutation	CTG,GTG	L36V	NP_036246.1
XM_011527861.1	318	Missense Mutation	CTG,GTG	L36V	XP_011526163.1

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