Product Details

SNP ID
rs199474704
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:46859574 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTCCACGAAGTCCTCATAGGTGC[C/A]TGTGTCCTTGTTCTTGGAAATGTGC
Phenotype
MIM: 160790
Polymorphism
C/A, Transversion substitution
Allele Nomenclature
Literature Links
MYL3 PubMed Links

Gene Details

Gene
MYL3
Gene Name
myosin light chain 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000258.2 475 Missense Mutation GGC,TGC G128C NP_000249.1

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