Product Details

SNP ID

rs201134349

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:31820354 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCGCGGAGGGCAGTGCTGGGCCCC[C/T]GGCAGCCCTGCCCCAGCAGACTGCG

Phenotype

MIM: 606566

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MYLK2 PubMed Links

Gene Details

Gene

MYLK2

Gene Name

myosin light chain kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033118.3	383	Missense Mutation	CCG,CTG	P94L	NP_149109.1

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