Product Details

SNP ID

rs2234700

Assay Type

DME

NCBI dbSNP Submissions

41

Location

Chr.1:225845195 on Build GRCh38

Set Membership

HapMap DME Validated Inventoried

Context Sequence [VIC/FAM]

CTTCTCTGCCTTCCCTTTTGAGCTA[C/T]TGCACACGCCTGAAAAGTGGGTGAG

Phenotype

MIM: 132810

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EPHX1 PubMed Links

Additional Information

For this assay, SNP(s) [rs4149229] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

EPHX1

Gene Name

epoxide hydrolase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000120.3	1465	Silent Mutation	CTG,TTG	L406L	NP_000111.1
NM_001136018.3	1465	Silent Mutation	CTG,TTG	L406L	NP_001129490.1
NM_001291163.1	1465	Silent Mutation	CTG,TTG	L406L	NP_001278092.1

Gene

TMEM63A

Gene Name

transmembrane protein 63A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014698.2	1465	Intron			NP_055513.2
XM_006711841.3	1465	Intron			XP_006711904.1
XM_011544328.2	1465	Intron			XP_011542630.1
XM_011544329.2	1465	Intron			XP_011542631.1
XM_011544330.2	1465	Intron			XP_011542632.1
XM_011544331.2	1465	Intron			XP_011542633.1
XM_011544332.2	1465	Intron			XP_011542634.1
XM_017002916.1	1465	Intron			XP_016858405.1

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