Product Details

SNP ID

rs138130914

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:31820246 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAAGAAAGATGCCAAAGCCCCTG[A/C]CTCAGAGAAAGGGGATGGTACCCTG

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	275	Missense Mutation	GAC,GCC	D58A	NP_149109.1

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