WormBase Tree Display for Variation: WBVar00249002
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| WBVar00249002 | Name | Public_name | sy511 | ||||
|---|---|---|---|---|---|---|---|
| Other_name | CE02031:p.Gln707Ter | ||||||
| R144.1.1:c.2119C>T | |||||||
| HGVSg | CHROMOSOME_III:g.5035408C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | R144 | |||
| Flanking_sequences | gtgttcattgcgtcttctgtcgtatttttg | aaagtttggcgtatttgattgatgtggagg | |||||
| Mapping_target | R144 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00025021 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00030868 | ||||||
| WBStrain00031063 | |||||||
| Laboratory | PS | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00002218 | |||||
| Transcript | R144.1.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | R144.1.1:c.2119C>T | ||||||
| HGVSp | CE02031:p.Gln707Ter | ||||||
| cDNA_position | 2139 | ||||||
| CDS_position | 2119 | ||||||
| Protein_position | 707 | ||||||
| Exon_number | 11/15 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| Interactor | WBInteraction000502045 | ||||||
| Genetics | Interpolated_map_position | III | -2.20925 | ||||
| Mapping_data | In_multi_point | 5474 | |||||
| Disease_info | Models_disease | DOID:898 | |||||
| Models_disease_in_annotation | WBDOannot00000517 | ||||||
| Method | Substitution_allele |
