WormBase Tree Display for Variation: WBVar00146702
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| WBVar00146702 | Evidence | Paper_evidence | WBPaper00040589 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | h844 | |||||||
| Other_name | E01A2.4.1:c.451C>T | ||||||||
| CE24871:p.Gln151Ter | |||||||||
| HGVSg | CHROMOSOME_I:g.4131494G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | E01A2 | |||||
| Flanking_sequences | aggagtcgatctcctcctccgagaagacaa | aacgctcaagaagtccaccaccagcaaaac | |||||||
| Mapping_target | E01A2 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00040589 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00023893 | ||||||||
| Laboratory | KR | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00002696 | |||||||
| Transcript | E01A2.4.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | E01A2.4.1:c.451C>T | ||||||||
| HGVSp | CE24871:p.Gln151Ter | ||||||||
| cDNA_position | 483 | ||||||||
| CDS_position | 451 | ||||||||
| Protein_position | 151 | ||||||||
| Exon_number | 4/6 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Genetics | Interpolated_map_position | I | -1.70343 | ||||||
| Description | Phenotype | WBPhenotype:0000058 | Paper_evidence | WBPaper00003985 | |||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000083 | Paper_evidence | WBPaper00040589 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Life_stage | WBls:0000035 | PATO:0000460 | Paper_evidence | WBPaper00040589 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | KR1506 sDp2; let-504 (h844) dpy-5 (e61) unc-13 (e450) | Paper_evidence | WBPaper00040589 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000396 | Paper_evidence | WBPaper00040589 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | gonad arms do not turn | Paper_evidence | WBPaper00040589 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0005178 | PATO:0000460 | Paper_evidence | WBPaper00040589 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | KR1506 sDp2; let-504 (h844) dpy-5 (e61) unc-13 (e450) | Paper_evidence | WBPaper00040589 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Reference | WBPaper00040589 | ||||||||
| WBPaper00003985 | |||||||||
| Method | Substitution_allele |
