Product Details

SNP ID
rs189776455
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:10301670 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTCTAGCTCATGCTGGACTCTCC[A/G]GCATCTGGACAGCTGCGTGTTGGCC
Phenotype
MIM: 603487
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MYH13 PubMed Links

Gene Details

Gene
MYH13
Gene Name
myosin heavy chain 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003802.2 5791 Missense Mutation CGG,TGG R1901W NP_003793.2

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