WormBase Tree Display for Variation: WBVar00242727
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| WBVar00242727 | Evidence | Paper_evidence | WBPaper00032351 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | sf20 | |||||
| Other_name | C06A5.7a.2:c.550C>T | ||||||
| CE29024:p.Gln193Ter | |||||||
| C06A5.7b.1:c.577C>T | |||||||
| CE29023:p.Gln184Ter | |||||||
| C06A5.7a.1:c.550C>T | |||||||
| HGVSg | CHROMOSOME_I:g.5995787G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | C06A5 | |||
| Flanking_sequences | acaggtatgcacaatgtgctcaatcaacca | aatattataatgcactaaaaggaaaaacac | |||||
| Mapping_target | C06A5 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00032351 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00007705 | ||||||
| Laboratory | GB | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006823 | |||||
| Transcript | C06A5.7b.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | C06A5.7b.1:c.577C>T | ||||||
| HGVSp | CE29024:p.Gln193Ter | ||||||
| cDNA_position | 724 | ||||||
| CDS_position | 577 | ||||||
| Protein_position | 193 | ||||||
| Exon_number | 6/12 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| C06A5.7a.2 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C06A5.7a.2:c.550C>T | ||||||
| HGVSp | CE29023:p.Gln184Ter | ||||||
| cDNA_position | 898 | ||||||
| CDS_position | 550 | ||||||
| Protein_position | 184 | ||||||
| Exon_number | 6/12 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| C06A5.7a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C06A5.7a.1:c.550C>T | ||||||
| HGVSp | CE29023:p.Gln184Ter | ||||||
| cDNA_position | 804 | ||||||
| CDS_position | 550 | ||||||
| Protein_position | 184 | ||||||
| Exon_number | 7/13 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| Genetics | Interpolated_map_position | I | 0.643534 | ||||
| Description | Phenotype | WBPhenotype:0000154 | Paper_evidence | WBPaper00032351 | |||
| Curator_confirmed | WBPerson1754 | ||||||
| WBPhenotype:0000553 | Paper_evidence | WBPaper00032351 | |||||
| Curator_confirmed | WBPerson1754 | ||||||
| WBPhenotype:0000643 | Paper_evidence | WBPaper00032351 | |||||
| Curator_confirmed | WBPerson1754 | ||||||
| WBPhenotype:0002131 | Paper_evidence | WBPaper00032351 | |||||
| Curator_confirmed | WBPerson1754 | ||||||
| Reference | WBPaper00032351 | ||||||
| Method | Substitution_allele |
