Q91Z92 · B3GT6_MOUSE
- ProteinBeta-1,3-galactosyltransferase 6
- GeneB3galt6
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids325 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs224896386 | 13 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000070.7:g.156077036G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.156077036G>A Locations: - p.Ala13Val (Ensembl:ENSMUST00000052185) - c.38C>T (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs265747080 | 21 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000070.7:g.156077011G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.156077011G>C Locations: - p.Phe21Leu (Ensembl:ENSMUST00000052185) - c.63C>G (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs245507952 | 23 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000070.7:g.156077007C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.156077007C>T Locations: - p.Gly23Ser (Ensembl:ENSMUST00000052185) - c.67G>A (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs220060251 | 37 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.63) Somatic: No Accession: NC_000070.7:g.156076963C>G Codon: GAG/GAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.156076963C>G Locations: - p.Glu37Asp (Ensembl:ENSMUST00000052185) - c.111G>C (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs249796617 | 72 | S>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.08) Somatic: No Accession: NC_000070.7:g.156076860T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.156076860T>C Locations: - p.Ser72Gly (Ensembl:ENSMUST00000052185) - c.214A>G (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs230813510 | 78 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.4) Somatic: No Accession: NC_000070.7:g.156076841T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.156076841T>C Locations: - p.Glu78Gly (Ensembl:ENSMUST00000052185) - c.233A>G (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs253554078 | 84 | E>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.63) Somatic: No Accession: NC_000070.7:g.156076823T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.156076823T>G Locations: - p.Glu84Ala (Ensembl:ENSMUST00000052185) - c.251A>C (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs218273589 | 84 | E>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000070.7:g.156076824C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.156076824C>T Locations: - p.Glu84Lys (Ensembl:ENSMUST00000052185) - c.250G>A (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs3394868747 | 183 | S>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000070.7:g.156076526G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.156076526G>C Locations: - p.Ser183Cys (Ensembl:ENSMUST00000052185) - c.548C>G (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs3395131514 | 288 | M>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000070.7:g.156076212T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.156076212T>G Locations: - p.Met288Leu (Ensembl:ENSMUST00000052185) - c.862A>C (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs3394853617 | 320 | R>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000070.7:g.156076115C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.156076115C>T Locations: - p.Arg320His (Ensembl:ENSMUST00000052185) - c.959G>A (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs3394868789 | 321 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000070.7:g.156076113T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 4q Genomic location: NC_000070.7:g.156076113T>A Locations: - p.Lys321Ter (Ensembl:ENSMUST00000052185) - c.961A>T (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs3394868770 | 321 | K>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.25) Somatic: No Accession: NC_000070.7:g.156076112T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.156076112T>C Locations: - p.Lys321Arg (Ensembl:ENSMUST00000052185) - c.962A>G (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs264403238 | 324 | V>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000070.7:g.156076104C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 4q Genomic location: NC_000070.7:g.156076104C>T Locations: - p.Val324Ile (Ensembl:ENSMUST00000052185) - c.970G>A (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: | |||||||
rs3395179885 | 326 | *>R | EVA | ||||
Consequence: stop lost Somatic: No Accession: NC_000070.7:g.156076098A>G Codon: TGA/CGA Consequence type: stop lost Cytogenetic band: 4q Genomic location: NC_000070.7:g.156076098A>G Locations: - p.Ter326ArgextTer10 (Ensembl:ENSMUST00000052185) - c.976T>C (Ensembl:ENSMUST00000052185) Source type: large scale study Cross-references: |