Q80WV3 · CHST2_MOUSE
- ProteinCarbohydrate sulfotransferase 2
- GeneChst2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids530 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs250456505 | 35 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000075.7:g.95288242G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.95288242G>C Locations: - p.Arg35Gly (Ensembl:ENSMUST00000036267) - c.103C>G (Ensembl:ENSMUST00000036267) Source type: large scale study Cross-references: | |||||||
rs3547548505 | 116 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.21) Somatic: No Accession: NC_000075.7:g.95287999C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.95287999C>G Locations: - p.Ala116Pro (Ensembl:ENSMUST00000036267) - c.346G>C (Ensembl:ENSMUST00000036267) Source type: large scale study Cross-references: | |||||||
rs3400568291 | 286 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.81) Somatic: No Accession: NC_000075.7:g.95287488T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.95287488T>C Locations: - p.Gln286Arg (Ensembl:ENSMUST00000036267) - c.857A>G (Ensembl:ENSMUST00000036267) Source type: large scale study Cross-references: | |||||||
rs3399970119 | 287 | R>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.97) Somatic: No Accession: NC_000075.7:g.95287486G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.95287486G>T Locations: - p.Arg287Ser (Ensembl:ENSMUST00000036267) - c.859C>A (Ensembl:ENSMUST00000036267) Source type: large scale study Cross-references: | |||||||
rs3399970081 | 288 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.95287483G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.95287483G>C Locations: - p.Leu288Val (Ensembl:ENSMUST00000036267) - c.862C>G (Ensembl:ENSMUST00000036267) Source type: large scale study Cross-references: | |||||||
rs3400520941 | 289 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000075.7:g.95287480C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.95287480C>G Locations: - p.Ala289Pro (Ensembl:ENSMUST00000036267) - c.865G>C (Ensembl:ENSMUST00000036267) Source type: large scale study Cross-references: | |||||||
rs3400614215 | 290 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.26) Somatic: No Accession: NC_000075.7:g.95287477G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.95287477G>C Locations: - p.Arg290Gly (Ensembl:ENSMUST00000036267) - c.868C>G (Ensembl:ENSMUST00000036267) Source type: large scale study Cross-references: | |||||||
rs3400568309 | 291 | F>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.13) Somatic: No Accession: NC_000075.7:g.95287474A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.95287474A>C Locations: - p.Phe291Val (Ensembl:ENSMUST00000036267) - c.871T>G (Ensembl:ENSMUST00000036267) Source type: large scale study Cross-references: | |||||||
rs3400518819 | 303 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.95287437A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.95287437A>G Locations: - p.Ile303Thr (Ensembl:ENSMUST00000036267) - c.908T>C (Ensembl:ENSMUST00000036267) Source type: large scale study Cross-references: | |||||||
rs1132395269 | 413 | P>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.95287107G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.95287107G>T Locations: - p.Pro413His (Ensembl:ENSMUST00000036267) - c.1238C>A (Ensembl:ENSMUST00000036267) Source type: large scale study Cross-references: | |||||||
rs6378272 | 437 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.19) Somatic: No Accession: NC_000075.7:g.95287035C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.95287035C>T Locations: - p.Arg437Gln (Ensembl:ENSMUST00000036267) - c.1310G>A (Ensembl:ENSMUST00000036267) Source type: large scale study Cross-references: | |||||||
rs3507920956 | 452 | E>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000075.7:g.95286991C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.95286991C>G Locations: - p.Glu452Gln (Ensembl:ENSMUST00000036267) - c.1354G>C (Ensembl:ENSMUST00000036267) Source type: large scale study Cross-references: |