WormBase Tree Display for Variation: WBVar00146422
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| WBVar00146422 | Evidence | Paper_evidence | WBPaper00045317 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | h91 | |||||||
| Other_name | CE38999:p.Gln27Ter | ||||||||
| C27A12.3.1:c.79C>T | |||||||||
| HGVSg | CHROMOSOME_I:g.6038588C>T | ||||||||
| Sequence_details | SMap | S_parent | Sequence | C27A12 | |||||
| Flanking_sequences | AATTTTCGAGGAATGGGCAGCTGAGTGCACTCCCGACGCG | AAAAAGAGCACGAAGAGCTCGAGGAGATTGTCAAGATTCC | |||||||
| Mapping_target | CHROMOSOME_I | ||||||||
| Source_location | 200 | CHROMOSOME_I | 6038590 | 6038590 | |||||
| Type_of_mutation | Substitution | C | T | ||||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00023672 | ||||||||
| Laboratory | KR | ||||||||
| Analysis | WGS_Rose | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00006492 | |||||||
| Transcript | C27A12.3.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C27A12.3.1:c.79C>T | ||||||||
| HGVSp | CE38999:p.Gln27Ter | ||||||||
| cDNA_position | 107 | ||||||||
| CDS_position | 79 | ||||||||
| Protein_position | 27 | ||||||||
| Exon_number | 3/10 | ||||||||
| Codon_change | Caa/Taa | ||||||||
| Amino_acid_change | Q/* | ||||||||
| Genetics | Interpolated_map_position | I | 0.696557 | ||||||
| Mapping_data | In_2_point | 2555 | |||||||
| In_multi_point | 1041 | ||||||||
| 1466 | |||||||||
| In_pos_neg_data | 2700 | ||||||||
| 5554 | |||||||||
| 5701 | |||||||||
| Description | Phenotype | WBPhenotype:0000054 | Person_evidence | WBPerson261 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | late larval lethal or sterile adult | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000055 | Paper_evidence | WBPaper00002829 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Recessive | Paper_evidence | WBPaper00002829 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Genotype | dpy-5 unc-13; sDp2 | Paper_evidence | WBPaper00002829 | |||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000058 | Paper_evidence | WBPaper00003985 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000062 | Paper_evidence | WBPaper00040589 | |||||||
| WBPaper00000975 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0000688 | Paper_evidence | WBPaper00003985 | |||||||
| Person_evidence | WBPerson261 | ||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | late larval lethal or sterile adult | Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Person_evidence | WBPerson261 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Reference | WBPaper00040589 | ||||||||
| WBPaper00002829 | |||||||||
| WBPaper00000975 | |||||||||
| WBPaper00003985 | |||||||||
| WBPaper00000699 | |||||||||
| WBPaper00045317 | |||||||||
| Method | Substitution_allele |
