WormBase Tree Display for Variation: WBVar00239446
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| WBVar00239446 | Evidence | Person_evidence | WBPerson1519 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | pk3321 | |||||||
| Other_name | CE30331:p.Asp130Asn | ||||||||
| C04F5.1.1:c.388G>A | |||||||||
| HGVSg | CHROMOSOME_V:g.5120421G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | C04F5 | |||||
| Flanking_sequences | ggaaaactgctcaatccgctcgttgagcaa | atttcggggcgcacagaaagaggcacagga | |||||||
| Mapping_target | C04F5 | ||||||||
| Type_of_mutation | Substitution | g | a | Person_evidence | WBPerson1519 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain (24) | |||||||||
| Component_of_genotype | WBGenotype00000146 | ||||||||
| Laboratory | NL | ||||||||
| TU | |||||||||
| SHU | |||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00004795 | |||||||
| Transcript | C04F5.1.1 (12) | ||||||||
| Isolation | Mutagen | EMS | Person_evidence | WBPerson1519 | |||||
| Forward_genetics | scored for RANi defectiveness | Person_evidence | WBPerson1519 | ||||||
| Genetics | Interpolated_map_position | V | -2.49593 | ||||||
| Description | Phenotype | WBPhenotype:0001208 | Person_evidence | WBPerson1519 | |||||
| Curator_confirmed | WBPerson48 | ||||||||
| Recessive | Person_evidence | WBPerson1519 | |||||||
| Curator_confirmed | WBPerson48 | ||||||||
| Variation_effect | Loss_of_function_undetermined_extent | Person_evidence | WBPerson1519 | ||||||
| Curator_confirmed | WBPerson48 | ||||||||
| Phenotype_assay | Genotype | sid-1(pk3321) | Person_evidence | WBPerson1519 | |||||
| Curator_confirmed | WBPerson48 | ||||||||
| WBPhenotype:0002589 | Paper_evidence | WBPaper00064375 | |||||||
| Curator_confirmed | WBPerson87 | ||||||||
| Remark | dopaminergic neuroprotection from a-syn-induced dopaminergic neurodegeneration | Paper_evidence | WBPaper00064375 | ||||||
| Curator_confirmed | WBPerson87 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0004009 | PATO:0000460 | Paper_evidence | WBPaper00064375 | ||||
| Curator_confirmed | WBPerson87 | ||||||||
| WBbt:0004007 | PATO:0000460 | Paper_evidence | WBPaper00064375 | ||||||
| Curator_confirmed | WBPerson87 | ||||||||
| WBbt:0004938 | PATO:0000460 | Paper_evidence | WBPaper00064375 | ||||||
| Curator_confirmed | WBPerson87 | ||||||||
| WBbt:0004937 | PATO:0000460 | Paper_evidence | WBPaper00064375 | ||||||
| Curator_confirmed | WBPerson87 | ||||||||
| WBbt:0004933 | PATO:0000460 | Paper_evidence | WBPaper00064375 | ||||||
| Curator_confirmed | WBPerson87 | ||||||||
| WBbt:0004931 | PATO:0000460 | Paper_evidence | WBPaper00064375 | ||||||
| Curator_confirmed | WBPerson87 | ||||||||
| Phenotype_assay | Control_strain | WBStrain00035179 | Paper_evidence | WBPaper00064375 | |||||
| Curator_confirmed | WBPerson87 | ||||||||
| Genotype | baIn11[Pdat-1:: -syn (human, wildtype), Pdat-1::GFP] | Paper_evidence | WBPaper00064375 | ||||||
| Curator_confirmed | WBPerson87 | ||||||||
| Disease_info | Modifies_disease | DOID:14330 | |||||||
| Modifies_disease_in_annotation | WBDOannot00001347 | ||||||||
| WBDOannot00001349 | |||||||||
| Reference | WBPaper00065007 | ||||||||
| WBPaper00064995 | |||||||||
| WBPaper00064979 | |||||||||
| WBPaper00065275 | |||||||||
| WBPaper00065312 | |||||||||
| WBPaper00065315 | |||||||||
| WBPaper00065712 | |||||||||
| WBPaper00065993 | |||||||||
| WBPaper00064375 | |||||||||
| Method | Substitution_allele |
