Product Details

SNP ID

rs192056427

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:31819630 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCTGGGAATTCAGAACCCATCAA[A/C]AGGTGCCAAGCTGGGGCAGGAGATG

Phenotype

MIM: 606566

Polymorphism

A/C, Transversion 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	152	Missense Mutation	AAA,ACA	K17T	NP_149109.1

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