Q5RJZ1 · RTEL1_RAT
- ProteinRegulator of telomere elongation helicase 1
- GeneRtel1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1274 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3320109712 | 419 | H>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious (0.01) Somatic: No Accession: NC_051338.1:g.168455669A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 3chr Genomic location: NC_051338.1:g.168455669A>C Locations: - p.His419Pro (Ensembl:ENSRNOT00000055030) - c.1256A>C (Ensembl:ENSRNOT00000055030) Source type: large scale study Cross-references: | |||||||
rs3320108913 | 1241 | A>T | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_051338.1:g.168464978G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 3chr Genomic location: NC_051338.1:g.168464978G>A Locations: - p.Ala1241Thr (Ensembl:ENSRNOT00000055030) - c.3721G>A (Ensembl:ENSRNOT00000055030) Source type: large scale study Cross-references: |