A0A1W2P6F0 · A0A1W2P6F0_MOUSE
- ProteinBeta-1,4-N-acetyl-galactosaminyl transferase 1
- GeneB4galnt1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids192 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389104336 | 17 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000076.7:g.127001923G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.127001923G>A Locations: - p.Cys17Tyr (Ensembl:ENSMUST00000217678) - c.50G>A (Ensembl:ENSMUST00000217678) Source type: large scale study Cross-references: | |||||||
rs3389123706 | 33 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000076.7:g.127001970C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.127001970C>A Locations: - p.Leu33Ile (Ensembl:ENSMUST00000217678) - c.97C>A (Ensembl:ENSMUST00000217678) Source type: large scale study Cross-references: | |||||||
rs3389131957 | 40 | W>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.14) Somatic: No Accession: NC_000076.7:g.127001991T>A Codon: TGG/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.127001991T>A Locations: - p.Trp40Arg (Ensembl:ENSMUST00000217678) - c.118T>A (Ensembl:ENSMUST00000217678) Source type: large scale study Cross-references: | |||||||
rs3389135485 | 43 | P>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.52) Somatic: No Accession: NC_000076.7:g.127002001C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.127002001C>A Locations: - p.Pro43Gln (Ensembl:ENSMUST00000217678) - c.128C>A (Ensembl:ENSMUST00000217678) Source type: large scale study Cross-references: | |||||||
rs3389139884 | 65 | V>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.127002067T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.127002067T>A Locations: - p.Val65Asp (Ensembl:ENSMUST00000217678) - c.194T>A (Ensembl:ENSMUST00000217678) Source type: large scale study Cross-references: | |||||||
rs245176436 | 73 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.34) Somatic: No Accession: NC_000076.7:g.127002090G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.127002090G>A Locations: - p.Gly73Arg (Ensembl:ENSMUST00000217678) - c.217G>A (Ensembl:ENSMUST00000217678) Source type: large scale study Cross-references: | |||||||
rs247290516 | 85 | K>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000076.7:g.127002622A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.127002622A>C Locations: - p.Lys85Thr (Ensembl:ENSMUST00000217678) - c.254A>C (Ensembl:ENSMUST00000217678) Source type: large scale study Cross-references: | |||||||
rs218686737 | 102 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000076.7:g.127002672C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.127002672C>T Locations: - p.Leu102Phe (Ensembl:ENSMUST00000217678) - c.304C>T (Ensembl:ENSMUST00000217678) Source type: large scale study Cross-references: | |||||||
rs3389104323 | 113 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.46) Somatic: No Accession: NC_000076.7:g.127002705G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.127002705G>A Locations: - p.Ala113Thr (Ensembl:ENSMUST00000217678) - c.337G>A (Ensembl:ENSMUST00000217678) Source type: large scale study Cross-references: | |||||||
rs253367411 | 133 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000076.7:g.127002881G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.127002881G>A Locations: - p.Ala133Thr (Ensembl:ENSMUST00000217678) - c.397G>A (Ensembl:ENSMUST00000217678) Source type: large scale study Cross-references: | |||||||
rs3389129600 | 148 | P>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000076.7:g.127002927C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 10q Genomic location: NC_000076.7:g.127002927C>G Locations: - p.Pro148Arg (Ensembl:ENSMUST00000217678) - c.443C>G (Ensembl:ENSMUST00000217678) Source type: large scale study Cross-references: |