A2AQI7 · A2AQI7_MOUSE
- ProteinAmino acid transporter
- GeneSlc1a2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids157 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3391830131 | 9 | M>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.18) Somatic: No Accession: NC_000068.8:g.102566323A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102566323A>G Locations: - p.Met9Val (Ensembl:ENSMUST00000123759) - c.25A>G (Ensembl:ENSMUST00000123759) Source type: large scale study Cross-references: | |||||||
rs3391970622 | 10 | H>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.23) Somatic: No Accession: NC_000068.8:g.102566327A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102566327A>T Locations: - p.His10Leu (Ensembl:ENSMUST00000123759) - c.29A>T (Ensembl:ENSMUST00000123759) Source type: large scale study Cross-references: | |||||||
rs3388571542 | 108 | G>D | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.102570073G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102570073G>A Locations: - p.Gly108Asp (Ensembl:ENSMUST00000123759) - c.323G>A (Ensembl:ENSMUST00000123759) Source type: large scale study Cross-references: | |||||||
rs3388575112 | 109 | T>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000068.8:g.102570076C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102570076C>G Locations: - p.Thr109Arg (Ensembl:ENSMUST00000123759) - c.326C>G (Ensembl:ENSMUST00000123759) Source type: large scale study Cross-references: | |||||||
rs3388573042 | 122 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.102570114G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102570114G>A Locations: - p.Ala122Thr (Ensembl:ENSMUST00000123759) - c.364G>A (Ensembl:ENSMUST00000123759) Source type: large scale study Cross-references: | |||||||
rs3388576872 | 129 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000068.8:g.102570135C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102570135C>G Locations: - p.Leu129Val (Ensembl:ENSMUST00000123759) - c.385C>G (Ensembl:ENSMUST00000123759) Source type: large scale study Cross-references: | |||||||
rs3388569612 | 131 | L>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.102570142T>G Codon: TTG/TGG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102570142T>G Locations: - p.Leu131Trp (Ensembl:ENSMUST00000123759) - c.392T>G (Ensembl:ENSMUST00000123759) Source type: large scale study Cross-references: | |||||||
rs3388567141 | 155 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.43) Somatic: No Accession: NC_000068.8:g.102570214G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.102570214G>C Locations: - p.Ser155Thr (Ensembl:ENSMUST00000123759) - c.464G>C (Ensembl:ENSMUST00000123759) Source type: large scale study Cross-references: |