Product Details

SNP ID
rs34553736
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:58193064 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCCCTGGGGCAGTGGAGACCTCG[A/G]TCCTGCGAGACTGCATAGCAGAGGC
Phenotype
MIM: 131399
Polymorphism
A/G, Transition 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_000502.5 226 Missense Mutation ATC,GTC I35V NP_000493.1

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