Q5ZJM7 · DCK2_CHICK
- ProteinDeoxycytidine kinase 2
- GeneDCK2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids265 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3555735576 | 10 | R>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_052544.1:g.13186795G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: Genomic location: NC_052544.1:g.13186795G>A Locations: - p.Arg10Cys (Ensembl:ENSGALT00010036212) - c.28C>T (Ensembl:ENSGALT00010036212) Source type: large scale study Cross-references: - EVA: rs3555735576 | |||||||
rs738382965 | 15 | D>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.54) Somatic: No Accession: NC_052544.1:g.13186779T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: Genomic location: NC_052544.1:g.13186779T>G Locations: - p.Asp15Ala (Ensembl:ENSGALT00010036212) - c.44A>C (Ensembl:ENSGALT00010036212) Source type: large scale study Cross-references: - EVA: rs738382965 | |||||||
rs731551467 | 18 | S>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_052544.1:g.13186771A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: Genomic location: NC_052544.1:g.13186771A>G Locations: - p.Ser18Pro (Ensembl:ENSGALT00010036212) - c.52T>C (Ensembl:ENSGALT00010036212) Source type: large scale study Cross-references: - EVA: rs731551467 | |||||||
rs1057830288 | 120 | H>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_052544.1:g.13185359A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: Genomic location: NC_052544.1:g.13185359A>C Locations: - p.His120Gln (Ensembl:ENSGALT00010036212) - c.360T>G (Ensembl:ENSGALT00010036212) Source type: large scale study Cross-references: - EVA: rs1057830288 | |||||||
rs10724782 | 247 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.6) Somatic: No Accession: NC_052544.1:g.13182865T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: Genomic location: NC_052544.1:g.13182865T>C Locations: - p.Asn247Ser (Ensembl:ENSGALT00010036212) - c.740A>G (Ensembl:ENSGALT00010036212) Source type: large scale study Cross-references: - EVA: rs10724782 |