Product Details

SNP ID

rs199791180

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:31820299 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAACCCTCAACTAGCAGCCAAGGC[C/T]CCAAAGGAGAGGGTGACAGGGGCGG

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	328	Missense Mutation	CCC,TCC	P76S	NP_149109.1

View Full Product Details