Q8C0M5 · Q8C0M5_MOUSE
- ProteinSushi domain containing 6
- GeneSusd6
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids323 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389258109 | 17 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000078.7:g.80874946C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.80874946C>T Locations: - p.Thr17Ile (Ensembl:ENSMUST00000220238) - c.50C>T (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs3389240805 | 39 | A>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.17) Somatic: No Accession: NC_000078.7:g.80875012C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.80875012C>A Locations: - p.Ala39Asp (Ensembl:ENSMUST00000220238) - c.116C>A (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs3402834556 | 110 | C>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.80915345G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.80915345G>T Locations: - p.Cys110Phe (Ensembl:ENSMUST00000220238) - c.329G>T (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs3403402694 | 112 | N>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.15) Somatic: No Accession: NC_000078.7:g.80915350A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.80915350A>G Locations: - p.Asn112Asp (Ensembl:ENSMUST00000220238) - c.334A>G (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs3389251055 | 115 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000078.7:g.80915361G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 12q Genomic location: NC_000078.7:g.80915361G>A Locations: - p.Trp115Ter (Ensembl:ENSMUST00000220238) - c.345G>A (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs217585267 | 208 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.53) Somatic: No Accession: NC_000078.7:g.80921026T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.80921026T>A Locations: - p.Cys208Ser (Ensembl:ENSMUST00000220238) - c.622T>A (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs240379138 | 241 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.87) Somatic: No Accession: NC_000078.7:g.80921126A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.80921126A>C Locations: - p.Glu241Ala (Ensembl:ENSMUST00000220238) - c.722A>C (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs3403500720 | 259 | C>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000078.7:g.80921181T>G Codon: TGT/TGG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.80921181T>G Locations: - p.Cys259Trp (Ensembl:ENSMUST00000220238) - c.777T>G (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs3402834540 | 262 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000078.7:g.80921189G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 12q Genomic location: NC_000078.7:g.80921189G>A Locations: - p.Trp262Ter (Ensembl:ENSMUST00000220238) - c.785G>A (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs3403490001 | 262 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.35) Somatic: No Accession: NC_000078.7:g.80921188T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.80921188T>C Locations: - p.Trp262Arg (Ensembl:ENSMUST00000220238) - c.784T>C (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs3403500669 | 265 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000078.7:g.80921199G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.80921199G>C Locations: - p.Gln265His (Ensembl:ENSMUST00000220238) - c.795G>C (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs3403667706 | 266 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.31) Somatic: No Accession: NC_000078.7:g.80921200G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.80921200G>A Locations: - p.Gly266Ser (Ensembl:ENSMUST00000220238) - c.796G>A (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs3403610310 | 267 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000078.7:g.80921203T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.80921203T>C Locations: - p.Ser267Pro (Ensembl:ENSMUST00000220238) - c.799T>C (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs3403468642 | 269 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000078.7:g.80921209A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.80921209A>C Locations: - p.Thr269Pro (Ensembl:ENSMUST00000220238) - c.805A>C (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs3389246630 | 287 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.2) Somatic: No Accession: NC_000078.7:g.80921265C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 12q Genomic location: NC_000078.7:g.80921265C>A Locations: - p.Ser287Arg (Ensembl:ENSMUST00000220238) - c.861C>A (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: | |||||||
rs3413155270 | 303 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000078.7:g.80921311C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 12q Genomic location: NC_000078.7:g.80921311C>T Locations: - p.Gln303Ter (Ensembl:ENSMUST00000220238) - c.907C>T (Ensembl:ENSMUST00000220238) Source type: large scale study Cross-references: |