Q80ZW2 · THEM6_MOUSE
- ProteinProtein THEM6
- GeneThem6
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids207 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389365586 | 35 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.55) Somatic: No Accession: NC_000081.7:g.74593247G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.74593247G>A Locations: - p.Arg35His (Ensembl:ENSMUST00000070923) - c.104G>A (Ensembl:ENSMUST00000070923) Source type: large scale study Cross-references: | |||||||
rs47067331 | 56 | P>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.83) Somatic: No Accession: NC_000081.7:g.74593310C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.74593310C>T Locations: - p.Pro56Leu (Ensembl:ENSMUST00000070923) - c.167C>T (Ensembl:ENSMUST00000070923) Source type: large scale study Cross-references: | |||||||
rs3389316558 | 183 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.74595342C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.74595342C>A Locations: - p.His183Asn (Ensembl:ENSMUST00000070923) - c.547C>A (Ensembl:ENSMUST00000070923) Source type: large scale study Cross-references: | |||||||
rs3389381274 | 184 | W>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000081.7:g.74595347G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 15q Genomic location: NC_000081.7:g.74595347G>T Locations: - p.Trp184Cys (Ensembl:ENSMUST00000070923) - c.552G>T (Ensembl:ENSMUST00000070923) Source type: large scale study Cross-references: |