D3YYR4 · D3YYR4_MOUSE
- ProteinPhosphotransferase
- GeneHk1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids184 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389095882 | 9 | D>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.62151324C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.62151324C>A Locations: - p.Asp9Tyr (Ensembl:ENSMUST00000139228) - c.25G>T (Ensembl:ENSMUST00000139228) Source type: large scale study Cross-references: | |||||||
rs3389095880 | 33 | M>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.62151251A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.62151251A>G Locations: - p.Met33Thr (Ensembl:ENSMUST00000139228) - c.98T>C (Ensembl:ENSMUST00000139228) Source type: large scale study Cross-references: | |||||||
rs3389046453 | 89 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.62140566T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.62140566T>A Locations: - p.Gln89Leu (Ensembl:ENSMUST00000139228) - c.266A>T (Ensembl:ENSMUST00000139228) Source type: large scale study Cross-references: | |||||||
rs3400633031 | 100 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.62140534T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.62140534T>G Locations: - p.Thr100Pro (Ensembl:ENSMUST00000139228) - c.298A>C (Ensembl:ENSMUST00000139228) Source type: large scale study Cross-references: | |||||||
rs3401209187 | 101 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.62140531G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.62140531G>A Locations: - p.Pro101Ser (Ensembl:ENSMUST00000139228) - c.301C>T (Ensembl:ENSMUST00000139228) Source type: large scale study Cross-references: | |||||||
rs3389109067 | 146 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000076.7:g.62134944T>A Codon: CAA/CAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.62134944T>A Locations: - p.Gln146His (Ensembl:ENSMUST00000139228) - c.438A>T (Ensembl:ENSMUST00000139228) Source type: large scale study Cross-references: | |||||||
rs3389069863 | 151 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000076.7:g.62134929C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.62134929C>A Locations: - p.Glu151Asp (Ensembl:ENSMUST00000139228) - c.453G>T (Ensembl:ENSMUST00000139228) Source type: large scale study Cross-references: |