WormBase Tree Display for Variation: WBVar00248948
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| WBVar00248948 | Evidence | Paper_evidence | WBPaper00001868 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | sy241 | |||||
| Other_name | K11D2.3c.1:c.760C>T | ||||||
| K11D2.3a.1:c.1207C>T | |||||||
| K11D2.3b.1:c.115C>T | |||||||
| CE40095:p.Gln39Ter | |||||||
| CE45092:p.Gln254Ter | |||||||
| CE28050:p.Gln403Ter | |||||||
| HGVSg | CHROMOSOME_I:g.12512839C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | K11D2 | |||
| Flanking_sequences | tatctgaaaatcatcgagaaaagtggatat | aagcattgccgtgggtccgctacattactc | |||||
| Mapping_target | K11D2 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00001868 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain (28) | |||||||
| Laboratory | PS | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006829 | |||||
| Transcript | K11D2.3c.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | K11D2.3c.1:c.760C>T | ||||||
| HGVSp | CE45092:p.Gln254Ter | ||||||
| cDNA_position | 760 | ||||||
| CDS_position | 760 | ||||||
| Protein_position | 254 | ||||||
| Exon_number | 4/4 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| K11D2.3b.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | K11D2.3b.1:c.115C>T | ||||||
| HGVSp | CE40095:p.Gln39Ter | ||||||
| cDNA_position | 115 | ||||||
| CDS_position | 115 | ||||||
| Protein_position | 39 | ||||||
| Exon_number | 2/2 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| K11D2.3a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | K11D2.3a.1:c.1207C>T | ||||||
| HGVSp | CE28050:p.Gln403Ter | ||||||
| cDNA_position | 1463 | ||||||
| CDS_position | 1207 | ||||||
| Protein_position | 403 | ||||||
| Exon_number | 8/9 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| Isolation | Mutagen | EMS | Paper_evidence | WBPaper00001868 | |||
| Genetics | Interpolated_map_position | I | 13.3204 | ||||
| Marked_rearrangement | hIn1[unc-101(sy241)] | ||||||
| Description | Phenotype | WBPhenotype:0000643 | Paper_evidence | WBPaper00001868 | |||
| Curator_confirmed | WBPerson625 | ||||||
| Remark | uncoordinated | Paper_evidence | WBPaper00001868 | ||||
| Curator_confirmed | WBPerson625 | ||||||
| Reference | WBPaper00001868 | ||||||
| WBPaper00029020 | |||||||
| WBPaper00014706 | |||||||
| Method | Substitution_allele |
