WormBase Tree Display for Variation: WBVar00248949
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| WBVar00248949 | Evidence | Paper_evidence | WBPaper00004273 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | sy247 | |||||||
| Other_name | CE43742:p.Gln528Ter | ||||||||
| C01C7.1b.1:c.1582C>T | |||||||||
| CE26967:p.Gln528Ter | |||||||||
| C01C7.1a.1:c.1582C>T | |||||||||
| HGVSg | CHROMOSOME_IV:g.12626375G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | C01C7 | |||||
| Flanking_sequences | tcatcgtcaccgtcaacgtcgagaggatca | aagcttcgcctgcgccttctcatgttagtt | |||||||
| Mapping_target | C01C7 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00004273 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00030839 | ||||||||
| WBStrain00030876 | |||||||||
| Laboratory | PS | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00000186 | |||||||
| Transcript | C01C7.1a.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C01C7.1a.1:c.1582C>T | ||||||||
| HGVSp | CE26967:p.Gln528Ter | ||||||||
| cDNA_position | 1638 | ||||||||
| CDS_position | 1582 | ||||||||
| Protein_position | 528 | ||||||||
| Exon_number | 8/14 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| C01C7.1b.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C01C7.1b.1:c.1582C>T | ||||||||
| HGVSp | CE43742:p.Gln528Ter | ||||||||
| cDNA_position | 1638 | ||||||||
| CDS_position | 1582 | ||||||||
| Protein_position | 528 | ||||||||
| Exon_number | 8/14 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Interactor (21) | |||||||||
| Genetics | Interpolated_map_position | IV | 6.12245 | ||||||
| Description | Phenotype | WBPhenotype:0000414 | Paper_evidence | WBPaper00004273 | |||||
| Curator_confirmed | WBPerson625 | ||||||||
| Remark | cell fate transformation | Paper_evidence | WBPaper00004273 | ||||||
| Curator_confirmed | WBPerson625 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006748 | PATO:0000460 | Paper_evidence | WBPaper00004273 | ||||
| Curator_confirmed | WBPerson625 | ||||||||
| WBPhenotype:0000699 | Paper_evidence | WBPaper00004273 | |||||||
| Curator_confirmed | WBPerson625 | ||||||||
| Remark | additional vulval differentiation | Paper_evidence | WBPaper00004273 | ||||||
| Curator_confirmed | WBPerson625 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006748 | PATO:0000460 | Paper_evidence | WBPaper00004273 | ||||
| Curator_confirmed | WBPerson625 | ||||||||
| Phenotype_not_observed | WBPhenotype:0000218 | Paper_evidence | WBPaper00031110 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | No significant number of overinduced animals (worms with greater than three VPCs induced) were detected. | Paper_evidence | WBPaper00031110 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000219 | Paper_evidence | WBPaper00031110 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | No underinduced animals (worms with fewer than 22 vulval cells or fewer than three VPCs induced) were detected. | Paper_evidence | WBPaper00031110 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Reference | WBPaper00004273 | ||||||||
| WBPaper00031110 | |||||||||
| Method | Substitution_allele |
