WormBase Tree Display for Variation: WBVar00054317
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| WBVar00054317 | Evidence | Paper_evidence | WBPaper00005344 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | cs42 | |||||||
| Other_name | C44H4.7c.1:c.121C>T | ||||||||
| C44H4.7b.1:c.121C>T | |||||||||
| C44H4.7a.1:c.121C>T | |||||||||
| CE31446:p.Gln41Ter | |||||||||
| CE31445:p.Gln41Ter | |||||||||
| CE50508:p.Gln41Ter | |||||||||
| HGVSg | CHROMOSOME_X:g.14603299C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | C44H4 | |||||
| Flanking_sequences | aacgcaattatgtcaacaattcagtcgttg | aaatgcacagcatgggcaatcagttgttgc | |||||||
| Mapping_target | C44H4 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00005344 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00035411 | ||||||||
| Laboratory | UP | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00001325 | |||||||
| Transcript | C44H4.7c.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C44H4.7c.1:c.121C>T | ||||||||
| HGVSp | CE50508:p.Gln41Ter | ||||||||
| cDNA_position | 160 | ||||||||
| CDS_position | 121 | ||||||||
| Protein_position | 41 | ||||||||
| Exon_number | 3/18 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| C44H4.7b.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C44H4.7b.1:c.121C>T | ||||||||
| HGVSp | CE31446:p.Gln41Ter | ||||||||
| cDNA_position | 196 | ||||||||
| CDS_position | 121 | ||||||||
| Protein_position | 41 | ||||||||
| Exon_number | 3/18 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| C44H4.7a.1 | VEP_consequence | stop_gained | |||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C44H4.7a.1:c.121C>T | ||||||||
| HGVSp | CE31445:p.Gln41Ter | ||||||||
| cDNA_position | 148 | ||||||||
| CDS_position | 121 | ||||||||
| Protein_position | 41 | ||||||||
| Exon_number | 3/19 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Interactor | WBInteraction000502308 | ||||||||
| Genetics | Interpolated_map_position | X | 18.3628 | ||||||
| Description | Phenotype_not_observed | WBPhenotype:0001376 | Paper_evidence | WBPaper00057072 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | "We introduced Punc-25GFP into eor-2(cs42), a null allele, and found no expression in RMED/V cell, as ju190." | Paper_evidence | WBPaper00057072 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Image | WBPicture0000014911 | Paper_evidence | WBPaper00057072 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005027 | PATO:0000460 | Paper_evidence | WBPaper00057072 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBbt:0005021 | PATO:0000460 | Paper_evidence | WBPaper00057072 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Reference | WBPaper00005344 | ||||||||
| WBPaper00057072 | |||||||||
| Method | Substitution_allele |
