F6RX99 · F6RX99_MOUSE
- ProteinMRE11A homolog A, double strand break repair nuclease
- GeneMre11a
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids170 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3389017660 | 8 | L>M | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.07) Somatic: No Accession: NC_000075.7:g.14708468C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.14708468C>A Locations: - p.Leu8Met (Ensembl:ENSMUST00000147676) - c.22C>A (Ensembl:ENSMUST00000147676) Source type: large scale study Cross-references: | |||||||
rs3389022139 | 9 | Y>C | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.14708472A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.14708472A>G Locations: - p.Tyr9Cys (Ensembl:ENSMUST00000147676) - c.26A>G (Ensembl:ENSMUST00000147676) Source type: large scale study Cross-references: | |||||||
rs3389012796 | 18 | R>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_000075.7:g.14710870G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.14710870G>A Locations: - p.Arg18Lys (Ensembl:ENSMUST00000147676) - c.53G>A (Ensembl:ENSMUST00000147676) Source type: large scale study Cross-references: | |||||||
rs227951952 | 57 | I>V | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.82) Somatic: No Accession: NC_000075.7:g.14716671A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.14716671A>G Locations: - p.Ile57Val (Ensembl:ENSMUST00000147676) - c.169A>G (Ensembl:ENSMUST00000147676) Source type: large scale study Cross-references: | |||||||
rs214910834 | 74 | R>Q | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (1) Somatic: No Accession: NC_000075.7:g.14716723G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.14716723G>A Locations: - p.Arg74Gln (Ensembl:ENSMUST00000147676) - c.221G>A (Ensembl:ENSMUST00000147676) Source type: large scale study Cross-references: | |||||||
rs1135040290 | 108 | I>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0) Somatic: No Accession: NC_000075.7:g.14721101T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.14721101T>C Locations: - p.Ile108Thr (Ensembl:ENSMUST00000147676) - c.323T>C (Ensembl:ENSMUST00000147676) Source type: large scale study Cross-references: | |||||||
rs1131710716 | 110 | E>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000075.7:g.14721106G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 9q Genomic location: NC_000075.7:g.14721106G>T Locations: - p.Glu110Ter (Ensembl:ENSMUST00000147676) - c.328G>T (Ensembl:ENSMUST00000147676) Source type: large scale study Cross-references: | |||||||
rs1134366824 | 110 | E>D | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.28) Somatic: No Accession: NC_000075.7:g.14721108A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.14721108A>C Locations: - p.Glu110Asp (Ensembl:ENSMUST00000147676) - c.330A>C (Ensembl:ENSMUST00000147676) Source type: large scale study Cross-references: | |||||||
rs3389027208 | 156 | R>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.04) Somatic: No Accession: NC_000075.7:g.14723190G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 9q Genomic location: NC_000075.7:g.14723190G>T Locations: - p.Arg156Leu (Ensembl:ENSMUST00000147676) - c.467G>T (Ensembl:ENSMUST00000147676) Source type: large scale study Cross-references: |