Product Details

SNP ID
rs117401486
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:17360554 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGATGGGGCTACAGGGATGCCTGC[A/G]GGGGGCCTCTGGGACTCCAGGATCT
Phenotype
MIM: 607647
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
PLVAP PubMed Links

Gene Details

Gene
PLVAP
Gene Name
plasmalemma vesicle associated protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_031310.2 1357 Silent Mutation CCC,CCT P432P NP_112600.1

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