WormBase Tree Display for Variation: WBVar00088373
expand all nodes | collapse all nodes | view schema
| WBVar00088373 | Evidence | Paper_evidence | WBPaper00032168 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | kx37 | |||||
| Other_name | F59F5.2a.1:c.310C>T | ||||||
| CE43105:p.Gln104Ter | |||||||
| HGVSg | CHROMOSOME_X:g.10534187C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | F59F5 | |||
| Flanking_sequences | acaaaagatcccatcactgagatgtcttca | aatttggaacaatatcaatttcaaagtttt | |||||
| Mapping_target | F59F5 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00032168 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | GH | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00010341 | |||||
| Transcript | F59F5.2a.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | F59F5.2a.1:c.310C>T | ||||||
| HGVSp | CE43105:p.Gln104Ter | ||||||
| cDNA_position | 396 | ||||||
| CDS_position | 310 | ||||||
| Protein_position | 104 | ||||||
| Exon_number | 4/15 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| Genetics | Interpolated_map_position | X | 2.22592 | ||||
| Description | Phenotype | WBPhenotype:0000706 | Paper_evidence | WBPaper00032168 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | Class II allele. Animals are like zu446, e.g. typically contained higher numbers of autofluorescent gut granules in anterior intestinal cells but lack autofluorescent gut granules in posterior adult intestinal cells. | Paper_evidence | WBPaper00032168 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Recessive | Paper_evidence | WBPaper00032168 | |||||
| Curator_confirmed | WBPerson712 | ||||||
| Variation_effect | Probable_null_via_phenotype | Paper_evidence | WBPaper00032168 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00032168 | ||||||
| Method | Substitution_allele |
