Product Details

SNP ID
rs150985019
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58193110 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGCCAAGTTGCTGGTGGATGCTG[C/G]CTACAATTGGACCCAGAAGAGGTGG
Phenotype
MIM: 131399
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
EPX PubMed Links

Gene Details

Gene
EPX
Gene Name
eosinophil peroxidase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000502.5 272 Missense Mutation GCC,GGC A50G NP_000493.1

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