G3UXY7 · G3UXY7_MOUSE
- ProteinAmylase 1, salivary
- GeneAmy1
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids131 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs13461871 | 42 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.113363537T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.113363537T>C Locations: - p.Glu42Gly (Ensembl:ENSMUST00000174147) - c.125A>G (Ensembl:ENSMUST00000174147) Source type: large scale study Cross-references: | |||||||
rs262780573 | 67 | H>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000069.7:g.113363147G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.113363147G>C Locations: - p.His67Asp (Ensembl:ENSMUST00000174147) - c.199C>G (Ensembl:ENSMUST00000174147) Source type: large scale study Cross-references: | |||||||
rs3388663519 | 103 | N>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.113363038T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.113363038T>A Locations: - p.Asn103Ile (Ensembl:ENSMUST00000174147) - c.308A>T (Ensembl:ENSMUST00000174147) Source type: large scale study Cross-references: | |||||||
rs3388640591 | 121 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.113358670C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.113358670C>A Locations: - p.Gly121Trp (Ensembl:ENSMUST00000174147) - c.361G>T (Ensembl:ENSMUST00000174147) Source type: large scale study Cross-references: | |||||||
rs3388648838 | 131 | G>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000069.7:g.113358640C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.113358640C>T Locations: - p.Gly131Arg (Ensembl:ENSMUST00000174147) - c.391G>A (Ensembl:ENSMUST00000174147) Source type: large scale study Cross-references: |