A2ALT2 · A2ALT2_MOUSE
- ProteinNonagouti
- Genea
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existencePredicted
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388599671 | 5 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000068.8:g.154887555G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.154887555G>C Locations: - p.Arg5Pro (Ensembl:ENSMUST00000148402) - c.14G>C (Ensembl:ENSMUST00000148402) Source type: large scale study Cross-references: | |||||||
rs13476855 | 13 | G>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000068.8:g.154887578G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.154887578G>A Locations: - p.Gly13Ser (Ensembl:ENSMUST00000148402) - c.37G>A (Ensembl:ENSMUST00000148402) Source type: large scale study Cross-references: | |||||||
rs222145190 | 37 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000068.8:g.154887651G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.154887651G>A Locations: - p.Arg37Gln (Ensembl:ENSMUST00000148402) - c.110G>A (Ensembl:ENSMUST00000148402) Source type: large scale study Cross-references: | |||||||
rs3392412292 | 52 | I>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000068.8:g.154887695A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.154887695A>C Locations: - p.Ile52Leu (Ensembl:ENSMUST00000148402) - c.154A>C (Ensembl:ENSMUST00000148402) Source type: large scale study Cross-references: | |||||||
rs213477125 | 70 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.22) Somatic: No Accession: NC_000068.8:g.154889644G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q Genomic location: NC_000068.8:g.154889644G>A Locations: - p.Arg70Gln (Ensembl:ENSMUST00000148402) - c.209G>A (Ensembl:ENSMUST00000148402) Source type: large scale study Cross-references: |