A0A5F8MPN7 · A0A5F8MPN7_MOUSE
- ProteinQueuine tRNA-ribosyltransferase accessory subunit 2
- GeneQtrt2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids416 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389420237 | 13 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.03) Somatic: No Accession: NC_000082.7:g.43701521C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43701521C>T Locations: - p.Cys13Tyr (Ensembl:ENSMUST00000239112) - c.38G>A (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3389411266 | 17 | K>N | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.1) Somatic: No Accession: NC_000082.7:g.43701508T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43701508T>G Locations: - p.Lys17Asn (Ensembl:ENSMUST00000239112) - c.51A>C (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3389408298 | 27 | C>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.56) Somatic: No Accession: NC_000082.7:g.43701479C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43701479C>G Locations: - p.Cys27Ser (Ensembl:ENSMUST00000239112) - c.80G>C (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs256027921 | 79 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000082.7:g.43700686T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43700686T>C Locations: - p.Lys79Glu (Ensembl:ENSMUST00000239112) - c.235A>G (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3389428079 | 90 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000082.7:g.43698386T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43698386T>A Locations: - p.Glu90Asp (Ensembl:ENSMUST00000239112) - c.270A>T (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs232937161 | 112 | K>E | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.43698322T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43698322T>C Locations: - p.Lys112Glu (Ensembl:ENSMUST00000239112) - c.334A>G (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3406017811 | 134 | Q>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.43697140T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43697140T>C Locations: - p.Gln134Arg (Ensembl:ENSMUST00000239112) - c.401A>G (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3406919346 | 218 | F>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.43692080A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43692080A>C Locations: - p.Phe218Cys (Ensembl:ENSMUST00000239112) - c.653T>G (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3405943706 | 218 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.43692079G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43692079G>T Locations: - p.Phe218Leu (Ensembl:ENSMUST00000239112) - c.654C>A (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3406841077 | 223 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.27) Somatic: No Accession: NC_000082.7:g.43692064A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43692064A>C Locations: - p.Phe223Leu (Ensembl:ENSMUST00000239112) - c.669T>G (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3406572388 | 224 | Q>K | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000082.7:g.43692063G>T Codon: CAA/AAA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43692063G>T Locations: - p.Gln224Lys (Ensembl:ENSMUST00000239112) - c.670C>A (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3405222775 | 245 | P>S | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000082.7:g.43692000G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43692000G>A Locations: - p.Pro245Ser (Ensembl:ENSMUST00000239112) - c.733C>T (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3389385712 | 266 | E>VS | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000082.7:g.43689413_43689414insTCTCCACACTACCTCAACCATCACTCA Codon: GAA/GTGAGTGATGGTTGAGGTAGTGTGGAGAAA Consequence type: stop gained Cytogenetic band: 16q Genomic location: NC_000082.7:g.43689413_43689414insTCTCCACACTACCTCAACCATCACTCA Locations: - p.Glu266delinsValSerAspGlyTer (Ensembl:ENSMUST00000239112) - c.796_797insTGAGTGATGGTTGAGGTAGTGTGGAGA (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3389366879 | 303 | Q>E | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000082.7:g.43687885G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43687885G>C Locations: - p.Gln303Glu (Ensembl:ENSMUST00000239112) - c.907C>G (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3389420286 | 303 | Q>L | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000082.7:g.43687884T>A Codon: CAA/CTA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43687884T>A Locations: - p.Gln303Leu (Ensembl:ENSMUST00000239112) - c.908A>T (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3389416987 | 350 | R>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000082.7:g.43683636T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43683636T>C Locations: - p.Arg350Gly (Ensembl:ENSMUST00000239112) - c.1048A>G (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3389415848 | 363 | A>S | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.09) Somatic: No Accession: NC_000082.7:g.43683597C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 16q Genomic location: NC_000082.7:g.43683597C>A Locations: - p.Ala363Ser (Ensembl:ENSMUST00000239112) - c.1087G>T (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: | |||||||
rs3389378263 | 417 | *>E | EVA | ||||
Consequence: stop lost Somatic: No Accession: NC_000082.7:g.43683438del Codon: TGA/GA Consequence type: stop lost Cytogenetic band: 16q Genomic location: NC_000082.7:g.43683438del Locations: - p.Ter417GlufsTer6 (Ensembl:ENSMUST00000239112) - c.1249del (Ensembl:ENSMUST00000239112) Source type: large scale study Cross-references: |