Q9Z266 · SNAPN_MOUSE
- ProteinSNARE-associated protein Snapin
- GeneSnapin
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids136 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3388625994 | 6 | S>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000069.7:g.90398265G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.90398265G>A Locations: - p.Ser6Phe (Ensembl:ENSMUST00000149884) - c.17C>T (Ensembl:ENSMUST00000149884) Source type: large scale study Cross-references: | |||||||
rs3388646918 | 11 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000069.7:g.90398250C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.90398250C>T Locations: - p.Gly11Glu (Ensembl:ENSMUST00000149884) - c.32G>A (Ensembl:ENSMUST00000149884) Source type: large scale study Cross-references: | |||||||
rs3388639182 | 13 | G>W | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.90398245C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.90398245C>A Locations: - p.Gly13Trp (Ensembl:ENSMUST00000149884) - c.37G>T (Ensembl:ENSMUST00000149884) Source type: large scale study Cross-references: | |||||||
rs3388644342 | 26 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.90398205G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.90398205G>A Locations: - p.Ala26Val (Ensembl:ENSMUST00000149884) - c.77C>T (Ensembl:ENSMUST00000149884) Source type: large scale study Cross-references: | |||||||
rs46674175 | 58 | I>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.90397872A>T Codon: ATT/AAT Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.90397872A>T Locations: - p.Ile58Asn (Ensembl:ENSMUST00000149884) - c.173T>A (Ensembl:ENSMUST00000149884) Source type: large scale study Cross-references: | |||||||
rs3388644378 | 61 | L>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000069.7:g.90397864G>T Codon: CTA/ATA Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.90397864G>T Locations: - p.Leu61Ile (Ensembl:ENSMUST00000149884) - c.181C>A (Ensembl:ENSMUST00000149884) Source type: large scale study Cross-references: | |||||||
rs3388644765 | 67 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000069.7:g.90397570C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 3q Genomic location: NC_000069.7:g.90397570C>T Locations: - p.Arg67Gln (Ensembl:ENSMUST00000149884) - c.200G>A (Ensembl:ENSMUST00000149884) Source type: large scale study Cross-references: |