WormBase Tree Display for Variation: WBVar00143688
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| WBVar00143688 | Evidence | Paper_evidence | WBPaper00000762 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | e1026 | |||||||
| Other_name | C37F5.1b.1:c.199C>T | ||||||||
| CE31440:p.Gln107Ter | |||||||||
| CE27833:p.Gln67Ter | |||||||||
| C37F5.1a.1:c.319C>T | |||||||||
| HGVSg | CHROMOSOME_IV:g.2278975G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | C37F5 | |||||
| Flanking_sequences | gatgcagaagccgtggcgagaaagtgggga | aacggaaggcgaaaccgcatatgaattatg | |||||||
| Mapping_target | C37F5 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00024367 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00004230 | ||||||||
| WBStrain00004804 | |||||||||
| Laboratory | CB | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00305307 | |||||||
| WBGene00002990 | |||||||||
| Transcript | C37F5.1a.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C37F5.1a.1:c.319C>T | ||||||||
| HGVSp | CE31440:p.Gln107Ter | ||||||||
| cDNA_position | 319 | ||||||||
| CDS_position | 319 | ||||||||
| Protein_position | 107 | ||||||||
| Exon_number | 3/7 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| C37F5.1b.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C37F5.1b.1:c.199C>T | ||||||||
| HGVSp | CE27833:p.Gln67Ter | ||||||||
| cDNA_position | 207 | ||||||||
| CDS_position | 199 | ||||||||
| Protein_position | 67 | ||||||||
| Exon_number | 2/6 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| C37F5.2 | |||||||||
| Interactor | WBInteraction000502311 | ||||||||
| Genetics | Interpolated_map_position | IV | -8.47562 | ||||||
| Description | Phenotype | WBPhenotype:0000700 | Paper_evidence | WBPaper00000762 | |||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Recessive | Paper_evidence | WBPaper00000762 | |||||||
| Curator_confirmed | WBPerson2021 | ||||||||
| EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00000762 | ||||
| Curator_confirmed | WBPerson2021 | ||||||||
| Reference | WBPaper00000762 | ||||||||
| Method | Substitution_allele |
