Product Details

SNP ID

rs140882323

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:58193378 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTCCTCTCCTGGGCAGCATCAAG[C/G]AGCGGCTTCGCAGCGGTTCAGCCAG

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	301	Missense Mutation	CAG,GAG	Q60E	NP_000493.1

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