D3Z4M3 · D3Z4M3_MOUSE
- ProteinEpoxide hydrolase 1, microsomal
- GeneEphx1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids130 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388522444 | 13 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.180829508A>T Codon: TTT/TTA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.180829508A>T Locations: - p.Phe13Leu (Ensembl:ENSMUST00000147585) - c.39T>A (Ensembl:ENSMUST00000147585) Source type: large scale study Cross-references: | |||||||
rs3388522120 | 18 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000067.7:g.180829495A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.180829495A>G Locations: - p.Phe18Leu (Ensembl:ENSMUST00000147585) - c.52T>C (Ensembl:ENSMUST00000147585) Source type: large scale study Cross-references: | |||||||
rs232798565 | 20 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000067.7:g.180829489A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.180829489A>T Locations: - p.Ser20Thr (Ensembl:ENSMUST00000147585) - c.58T>A (Ensembl:ENSMUST00000147585) Source type: large scale study Cross-references: | |||||||
rs13475472 | 22 | D>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000067.7:g.180829482T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.180829482T>C Locations: - p.Asp22Gly (Ensembl:ENSMUST00000147585) - c.65A>G (Ensembl:ENSMUST00000147585) Source type: large scale study Cross-references: | |||||||
rs3388518474 | 57 | D>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_000067.7:g.180829376A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 1q Genomic location: NC_000067.7:g.180829376A>T Locations: - p.Asp57Glu (Ensembl:ENSMUST00000147585) - c.171T>A (Ensembl:ENSMUST00000147585) Source type: large scale study Cross-references: |