Q9WVG7 · OSR1_MOUSE
- ProteinProtein odd-skipped-related 1
- GeneOsr1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids266 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389217186 | 7 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000078.7:g.9629147C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.9629147C>T Locations: - p.Pro7Ser (Ensembl:ENSMUST00000057021) - c.19C>T (Ensembl:ENSMUST00000057021) Source type: large scale study Cross-references: | |||||||
rs3389217192 | 13 | H>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000078.7:g.9629165C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.9629165C>T Locations: - p.His13Tyr (Ensembl:ENSMUST00000057021) - c.37C>T (Ensembl:ENSMUST00000057021) Source type: large scale study Cross-references: | |||||||
rs3389203907 | 25 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000078.7:g.9629201C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 12q Genomic location: NC_000078.7:g.9629201C>T Locations: - p.Gln25Ter (Ensembl:ENSMUST00000057021) - c.73C>T (Ensembl:ENSMUST00000057021) Source type: large scale study Cross-references: | |||||||
rs3389217172 | 46 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000078.7:g.9629264G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.9629264G>A Locations: - p.Ala46Thr (Ensembl:ENSMUST00000057021) - c.136G>A (Ensembl:ENSMUST00000057021) Source type: large scale study Cross-references: | |||||||
rs3549100010 | 108 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.42) Somatic: No Accession: NC_000078.7:g.9629450G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.9629450G>A Locations: - p.Gly108Ser (Ensembl:ENSMUST00000057021) - c.322G>A (Ensembl:ENSMUST00000057021) Source type: large scale study Cross-references: | |||||||
rs3389217189 | 138 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_000078.7:g.9629540G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.9629540G>A Locations: - p.Glu138Lys (Ensembl:ENSMUST00000057021) - c.412G>A (Ensembl:ENSMUST00000057021) Source type: large scale study Cross-references: | |||||||
rs3389245316 | 159 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.7) Somatic: No Accession: NC_000078.7:g.9629605A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.9629605A>T Locations: - p.Glu159Asp (Ensembl:ENSMUST00000057021) - c.477A>T (Ensembl:ENSMUST00000057021) Source type: large scale study Cross-references: | |||||||
rs3389227134 | 165 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.9629622G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.9629622G>A Locations: - p.Gly165Glu (Ensembl:ENSMUST00000057021) - c.494G>A (Ensembl:ENSMUST00000057021) Source type: large scale study Cross-references: | |||||||
rs3389203905 | 202 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.9629732C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.9629732C>A Locations: - p.Pro202Thr (Ensembl:ENSMUST00000057021) - c.604C>A (Ensembl:ENSMUST00000057021) Source type: large scale study Cross-references: | |||||||
rs3389241628 | 215 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.9629772A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.9629772A>T Locations: - p.Gln215Leu (Ensembl:ENSMUST00000057021) - c.644A>T (Ensembl:ENSMUST00000057021) Source type: large scale study Cross-references: |