Product Details

SNP ID
rs113145242
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:46709636 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGGCAGGCAAATTATTCAGCCAC[G/T]CGTGTTTCAGGCACTGTGTGGCACT
Phenotype
MIM: 612147
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MYLK3 PubMed Links

Gene Details

Gene
MYLK3
Gene Name
myosin light chain kinase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308301.1 1600 Missense Mutation GAG,GCG E427A NP_001295230.1
NM_182493.2 1600 Missense Mutation GAG,GCG E768A NP_872299.2
XM_006721334.3 1600 Missense Mutation GAG,GCG E427A XP_006721397.1

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