Product Details

SNP ID
rs72552267
Assay Type
DME
NCBI dbSNP Submissions
NA
Location
Chr.10:94775453 on Build GRCh38
Set Membership
DME Validated Inventoried
Context Sequence [VIC/FAM]
CGGCGTTTCTCCCTCATGACGCTGC[A/G]GAATTTTGGGATGGGGAAGAGGAGC
Phenotype
MIM: 124020
Polymorphism
A/G, Transition substitution
Allele Nomenclature
CYP2C19*6,c.395G>A CYP2C19*6,g.12748G>A
Literature Links
CYP2C19 PubMed Links

Gene Details

Gene
CYP2C19
Gene Name
cytochrome P450 family 2 subfamily C member 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000769.2 420 Missense Mutation CAG,CGG Q132R NP_000760.1

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