Q920H8 · HEPH_RAT
- ProteinHephaestin
- GeneHeph
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1157 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3323584826 | 25 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_051356.1:g.61302682A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: Xchr Genomic location: NC_051356.1:g.61302682A>G Locations: - p.Ile25Val (Ensembl:ENSRNOT00000017312) - c.73A>G (Ensembl:ENSRNOT00000017312) Source type: large scale study Cross-references: |