WormBase Tree Display for Variation: WBVar00275362
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| WBVar00275362 | Evidence | Paper_evidence | WBPaper00028743 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | yb1015 | |||||
| Other_name | CE48234:p.Gln217Ter | ||||||
| R74.5b.3:c.370C>T | |||||||
| CE01058:p.Gln242Ter | |||||||
| R74.5c.1:c.649C>T | |||||||
| CE33537:p.Gln124Ter | |||||||
| R74.5b.2:c.370C>T | |||||||
| R74.5a.1:c.724C>T | |||||||
| R74.5b.1:c.370C>T | |||||||
| HGVSg | CHROMOSOME_III:g.4200771C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | R74 | |||
| Flanking_sequences | atgccaccaacttctgcagcagccatctct | aactgcaagctcttcaatatcaacaggcac | |||||
| Mapping_target | R74 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00028743 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | KH | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00011279 | |||||
| Transcript | R74.5b.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | R74.5b.1:c.370C>T | ||||||
| HGVSp | CE33537:p.Gln124Ter | ||||||
| cDNA_position | 490 | ||||||
| CDS_position | 370 | ||||||
| Protein_position | 124 | ||||||
| Exon_number | 5/7 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| R74.5b.3 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | R74.5b.3:c.370C>T | ||||||
| HGVSp | CE33537:p.Gln124Ter | ||||||
| cDNA_position | 1561 | ||||||
| CDS_position | 370 | ||||||
| Protein_position | 124 | ||||||
| Exon_number | 4/6 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| R74.5a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | R74.5a.1:c.724C>T | ||||||
| HGVSp | CE01058:p.Gln242Ter | ||||||
| cDNA_position | 737 | ||||||
| CDS_position | 724 | ||||||
| Protein_position | 242 | ||||||
| Exon_number | 6/8 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| R74.5c.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | R74.5c.1:c.649C>T | ||||||
| HGVSp | CE48234:p.Gln217Ter | ||||||
| cDNA_position | 649 | ||||||
| CDS_position | 649 | ||||||
| Protein_position | 217 | ||||||
| Exon_number | 4/5 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| R74.5b.2 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | R74.5b.2:c.370C>T | ||||||
| HGVSp | CE33537:p.Gln124Ter | ||||||
| cDNA_position | 702 | ||||||
| CDS_position | 370 | ||||||
| Protein_position | 124 | ||||||
| Exon_number | 5/7 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| Genetics | Interpolated_map_position | III | -3.6747 | ||||
| Reference | WBPaper00028743 | ||||||
| Method | Substitution_allele |
