Product Details

SNP ID

rs6060966

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:31820409 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAGACCAGCGTCAAGAAGCCCAA[G/T]GCTGAGCAGGGAGCCTCAGGCAGCC

Phenotype

MIM: 606566

Polymorphism

G/T, 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	438	Missense Mutation	AAG,AAT	K112N	NP_149109.1

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