Product Details

SNP ID

rs17057255

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.8:27503724 on Build GRCh38

Set Membership

HapMap DME Validated Inventoried

Context Sequence [VIC/FAM]

GGCGATTTCAGCCAGAAAGATCAAC[C/T]GCCCCATGCTCCAGGCAGCTCTCAT

Phenotype

MIM: 132811

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EPHX2 PubMed Links

Gene Details

Gene

EPHX2

Gene Name

epoxide hydrolase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256482.1	346	Missense Mutation	CGC,TGC	R50C	NP_001243411.1
NM_001256483.1	346	Missense Mutation	CGC,TGC	R37C	NP_001243412.1
NM_001256484.1	346	Missense Mutation	CGC,TGC	R50C	NP_001243413.1
NM_001979.5	346	Missense Mutation	CGC,TGC	R103C	NP_001970.2
XM_017013199.1	346	Missense Mutation	CGC,TGC	R103C	XP_016868688.1
XM_017013200.1	346	Missense Mutation	CGC,TGC	R103C	XP_016868689.1

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