Q8BHH2 · RAB9B_MOUSE
- ProteinRas-related protein Rab-9B
- GeneRab9b
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids201 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3412132591 | 19 | G>V | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.135762349_135762350insATCCTCTTGGGTGATGGAGGAGTTGGGAAAAGCTCACTTATGAACCGTTATGTAACCAACAAGTTCGACTCCCAGGCTTTTCACAACTC Codon: GGG/GTGAAAAGCCTGGGAGTCGAACTTGTTGGTTACATAACGGTTCATAAGTGAGCTTTTCCCAACTCCTCCATCACCCAAGAGGATGAGTTGGG Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.135762349_135762350insATCCTCTTGGGTGATGGAGGAGTTGGGAAAAGCTCACTTATGAACCGTTATGTAACCAACAAGTTCGACTCCCAGGCTTTTCACAACTC Locations: - p.Gly19ValfsTer17 (Ensembl:ENSMUST00000058814) - c.55_56insTGAAAAGCCTGGGAGTCGAACTTGTTGGTTACATAACGGTTCATAAGTGAGCTTTTCCCAACTCCTCCATCACCCAAGAGGATGAGTTG (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3389586668 | 35 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_000086.8:g.135762294C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135762294C>A Locations: - p.Gln35His (Ensembl:ENSMUST00000058814) - c.105G>T (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3412038175 | 47 | R>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.135762259C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135762259C>G Locations: - p.Arg47Pro (Ensembl:ENSMUST00000058814) - c.140G>C (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3389569328 | 73 | R>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.135762181C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135762181C>A Locations: - p.Arg73Ile (Ensembl:ENSMUST00000058814) - c.218G>T (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3389483473 | 76 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.135762171G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135762171G>T Locations: - p.Phe76Leu (Ensembl:ENSMUST00000058814) - c.228C>A (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3389533924 | 79 | G>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.135762163C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135762163C>T Locations: - p.Gly79Glu (Ensembl:ENSMUST00000058814) - c.236G>A (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3409362326 | 107 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000086.8:g.135762079T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135762079T>C Locations: - p.Tyr107Cys (Ensembl:ENSMUST00000058814) - c.320A>G (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3409362242 | 109 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000086.8:g.135762073G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135762073G>A Locations: - p.Ala109Val (Ensembl:ENSMUST00000058814) - c.326C>T (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3389569304 | 110 | D>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.06) Somatic: No Accession: NC_000086.8:g.135762071C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135762071C>T Locations: - p.Asp110Asn (Ensembl:ENSMUST00000058814) - c.328G>A (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3389533927 | 120 | V>M | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000086.8:g.135762041C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135762041C>T Locations: - p.Val120Met (Ensembl:ENSMUST00000058814) - c.358G>A (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3389577019 | 134 | T>A | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.16) Somatic: No Accession: NC_000086.8:g.135761999T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135761999T>C Locations: - p.Thr134Ala (Ensembl:ENSMUST00000058814) - c.400A>G (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3389543179 | 139 | Q>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.135761984G>A Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.135761984G>A Locations: - p.Gln139Ter (Ensembl:ENSMUST00000058814) - c.415C>T (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3389572376 | 145 | N>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000086.8:g.135761965T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135761965T>C Locations: - p.Asn145Ser (Ensembl:ENSMUST00000058814) - c.434A>G (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3389483455 | 173 | L>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.11) Somatic: No Accession: NC_000086.8:g.135761882A>C Codon: TTA/GTA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135761882A>C Locations: - p.Leu173Val (Ensembl:ENSMUST00000058814) - c.517T>G (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3410732216 | 182 | C>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.135761853A>T Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.135761853A>T Locations: - p.Cys182Ter (Ensembl:ENSMUST00000058814) - c.546T>A (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3412518357 | 182 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.85) Somatic: No Accession: NC_000086.8:g.135761854C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135761854C>G Locations: - p.Cys182Ser (Ensembl:ENSMUST00000058814) - c.545G>C (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3412321619 | 182 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.85) Somatic: No Accession: NC_000086.8:g.135761855A>T Codon: TGT/AGT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135761855A>T Locations: - p.Cys182Ser (Ensembl:ENSMUST00000058814) - c.544T>A (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3411896368 | 184 | L>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.48) Somatic: No Accession: NC_000086.8:g.135761848A>G Codon: TTA/TCA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135761848A>G Locations: - p.Leu184Ser (Ensembl:ENSMUST00000058814) - c.551T>C (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: | |||||||
rs3389576955 | 187 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.02) Somatic: No Accession: NC_000086.8:g.135761839G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.135761839G>A Locations: - p.Thr187Ile (Ensembl:ENSMUST00000058814) - c.560C>T (Ensembl:ENSMUST00000058814) Source type: large scale study Cross-references: |