Product Details

SNP ID

rs57699806

Assay Type

DME

NCBI dbSNP Submissions

NA

Location

Chr.8:27505070 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

CACTTTGACTTCCTGATAGAGTCGT[A/G]TCAGGTGGGAATGGTCAAACCTGAA

Phenotype

MIM: 132811

Polymorphism

A/G, 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	500	Missense Mutation	TAT,TGT	Y101C	NP_001243411.1
NM_001256483.1	500	Missense Mutation	TAT,TGT	Y88C	NP_001243412.1
NM_001256484.1	500	Missense Mutation	TAT,TGT	Y101C	NP_001243413.1
NM_001979.5	500	Missense Mutation	TAT,TGT	Y154C	NP_001970.2
XM_017013199.1	500	Missense Mutation	TAT,TGT	Y154C	XP_016868688.1
XM_017013200.1	500	Missense Mutation	TAT,TGT	Y154C	XP_016868689.1

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