Product Details

SNP ID
rs5584
Assay Type
DME
NCBI dbSNP Submissions
NA
Location
Chr.20:49507925 on Build GRCh38
Set Membership
HapMap DME Validated Inventoried
Context Sequence [VIC/FAM]
GGATCCATCTGCTCCCTGTGTCATG[A/G]GCGGATGCGGTAGCGGACGGGCACG
Phenotype
MIM: 601699
Polymorphism
A/G, Transition substitution
Allele Nomenclature
CYP8A1,c.1498C>T
Literature Links
PTGIS PubMed Links

Gene Details

Gene
PTGIS
Gene Name
prostaglandin I2 (prostacyclin) synthase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000961.3 1552 Missense Mutation CCA,TCA P500S NP_000952.1

View Full Product Details