WormBase Tree Display for Variation: WBVar00088191
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| WBVar00088191 | Evidence | Paper_evidence | WBPaper00027186 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | k114 | |||||||
| Other_name | C12D8.5.1:c.527delinsA | ||||||||
| CE34156:p.Trp176Ter | |||||||||
| HGVSg | CHROMOSOME_V:g.10224551delinsT | ||||||||
| Sequence_details | SMap | S_parent | Sequence | C12D8 | |||||
| Flanking_sequences | gaattccagagcaagcaaaagtgacaacat | ccatgtatagaaagaaataataatatttat | |||||||
| Mapping_target | C12D8 | ||||||||
| Type_of_mutation | Substitution | gg | rr | ||||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00000022 | ||||||||
| Laboratory | MJ | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00007536 | |||||||
| Transcript | C12D8.5.1 | VEP_consequence | stop_gained | ||||||
| VEP_impact | HIGH | ||||||||
| HGVSc | C12D8.5.1:c.527delinsA | ||||||||
| HGVSp | CE34156:p.Trp176Ter | ||||||||
| cDNA_position | 578-579 | ||||||||
| CDS_position | 527-528 | ||||||||
| Protein_position | 176 | ||||||||
| Exon_number | 5/8 | ||||||||
| Codon_change | tGG/tAG | ||||||||
| Amino_acid_change | W/* | ||||||||
| Interactor | WBInteraction000009221 | ||||||||
| WBInteraction000052139 | |||||||||
| WBInteraction000052260 | |||||||||
| WBInteraction000502355 | |||||||||
| WBInteraction000503472 | |||||||||
| WBInteraction000504967 | |||||||||
| WBInteraction000504968 | |||||||||
| WBInteraction000504969 | |||||||||
| WBInteraction000517838 | |||||||||
| Genetics | Interpolated_map_position | V | 2.37938 | ||||||
| Description | Phenotype | WBPhenotype:0000045 | Paper_evidence | WBPaper00048971 | |||||
| Curator_confirmed | WBPerson24047 | ||||||||
| Remark | Figure 4, animals develop slowly as L1 larvae | Paper_evidence | WBPaper00048971 | ||||||
| Curator_confirmed | WBPerson24047 | ||||||||
| WBPhenotype:0000308 | Paper_evidence | WBPaper00031480 | |||||||
| WBPaper00031897 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | Very weak dauer arrest phenotype at 25C. | Paper_evidence | WBPaper00031480 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Penetrance | Low | Paper_evidence | WBPaper00031480 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Variation_effect | Null | Paper_evidence | WBPaper00031480 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Phenotype_assay | Temperature | 25 | Paper_evidence | WBPaper00031480 | |||||
| WBPaper00031897 | |||||||||
| Curator_confirmed | WBPerson712 | ||||||||
| WBPhenotype:0001236 | Paper_evidence | WBPaper00031480 | |||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | sod-3 mRNA levels are modestly increased as assayed by real-time reverse transcription. PCR. | Paper_evidence | WBPaper00031480 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| EQ_annotations | Life_stage | WBls:0000027 | PATO:0000460 | Paper_evidence | WBPaper00031480 | ||||
| Curator_confirmed | WBPerson712 | ||||||||
| Reference | WBPaper00031480 | ||||||||
| WBPaper00031897 | |||||||||
| WBPaper00048971 | |||||||||
| WBPaper00065317 | |||||||||
| Method | Substitution_allele |
