Q9D8T4 · TV23B_MOUSE
- ProteinGolgi apparatus membrane protein TVP23 homolog B
- GeneTvp23b
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids205 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs29401003 | 7 | N>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000077.7:g.62772769A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.62772769A>C Locations: - p.Asn7His (Ensembl:ENSMUST00000014321) - c.19A>C (Ensembl:ENSMUST00000014321) Source type: large scale study Cross-references: | |||||||
rs13475094 | 49 | V>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.83) Somatic: No Accession: NC_000077.7:g.62774502G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.62774502G>C Locations: - p.Val49Leu (Ensembl:ENSMUST00000014321) - c.145G>C (Ensembl:ENSMUST00000014321) Source type: large scale study Cross-references: | |||||||
rs3389128706 | 56 | L>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.62774524T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.62774524T>C Locations: - p.Leu56Pro (Ensembl:ENSMUST00000014321) - c.167T>C (Ensembl:ENSMUST00000014321) Source type: large scale study Cross-references: | |||||||
rs3389168465 | 67 | T>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000077.7:g.62774556A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.62774556A>T Locations: - p.Thr67Ser (Ensembl:ENSMUST00000014321) - c.199A>T (Ensembl:ENSMUST00000014321) Source type: large scale study Cross-references: | |||||||
rs3389171951 | 70 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.62774567G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.62774567G>C Locations: - p.Leu70Phe (Ensembl:ENSMUST00000014321) - c.210G>C (Ensembl:ENSMUST00000014321) Source type: large scale study Cross-references: | |||||||
rs3389165242 | 77 | W>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000077.7:g.62774587G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 11q Genomic location: NC_000077.7:g.62774587G>A Locations: - p.Trp77Ter (Ensembl:ENSMUST00000014321) - c.230G>A (Ensembl:ENSMUST00000014321) Source type: large scale study Cross-references: | |||||||
rs3389168532 | 78 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000077.7:g.62774589G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.62774589G>A Locations: - p.Ala78Thr (Ensembl:ENSMUST00000014321) - c.232G>A (Ensembl:ENSMUST00000014321) Source type: large scale study Cross-references: | |||||||
rs3402600136 | 124 | S>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000077.7:g.62777054T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.62777054T>A Locations: - p.Ser124Thr (Ensembl:ENSMUST00000014321) - c.370T>A (Ensembl:ENSMUST00000014321) Source type: large scale study Cross-references: | |||||||
rs3401723153 | 159 | M>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.62782781T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.62782781T>A Locations: - p.Met159Lys (Ensembl:ENSMUST00000014321) - c.476T>A (Ensembl:ENSMUST00000014321) Source type: large scale study Cross-references: | |||||||
rs3389165218 | 170 | G>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000077.7:g.62782814G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 11q Genomic location: NC_000077.7:g.62782814G>T Locations: - p.Gly170Val (Ensembl:ENSMUST00000014321) - c.509G>T (Ensembl:ENSMUST00000014321) Source type: large scale study Cross-references: |