Product Details

SNP ID

rs2137841

Assay Type

DME

NCBI dbSNP Submissions

19

Location

Chr.1:225844618 on Build GRCh38

Set Membership

DME Validated Inventoried

Context Sequence [VIC/FAM]

GACAGGGCTGGATGACCCAGAAGCA[A/T]GAGCGGTGAGCCTGGCTGAGCCGAG

Phenotype

MIM: 132810

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

EPHX1 PubMed Links

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	1410	Missense Mutation	CAA,CAT	Q387H	NP_000111.1
NM_001136018.3	1410	Missense Mutation	CAA,CAT	Q387H	NP_001129490.1
NM_001291163.1	1410	Missense Mutation	CAA,CAT	Q387H	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	1410	Intron			NP_055513.2
XM_006711841.3	1410	Intron			XP_006711904.1
XM_011544328.2	1410	Intron			XP_011542630.1
XM_011544329.2	1410	Intron			XP_011542631.1
XM_011544330.2	1410	Intron			XP_011542632.1
XM_011544331.2	1410	Intron			XP_011542633.1
XM_011544332.2	1410	Intron			XP_011542634.1
XM_017002916.1	1410	Intron			XP_016858405.1

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