WormBase Tree Display for Variation: WBVar00248911
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| WBVar00248911 | Evidence | Paper_evidence | WBPaper00001485 | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Name | Public_name | sy100 | |||||||
| Other_name | CE03827:p.Ser89Phe | ||||||||
| ZK792.6.1:c.266C>T | |||||||||
| HGVSg | CHROMOSOME_IV:g.11690117G>A | ||||||||
| Sequence_details | SMap | S_parent | Sequence | ZK792 | |||||
| Flanking_sequences | tgttggttttcgccgtcaacgaggctaaat | tttcgagaatgtcgctaactaccgcgagca | |||||||
| Mapping_target | ZK792 | ||||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00001485 | ||||
| SeqStatus | Sequenced | ||||||||
| Variation_type | Allele | ||||||||
| Origin | Species | Caenorhabditis elegans | |||||||
| Strain | WBStrain00030814 | ||||||||
| WBStrain00030815 | |||||||||
| Laboratory | PS | ||||||||
| Status | Live | ||||||||
| Affects | Gene | WBGene00002335 | |||||||
| Transcript | ZK792.6.1 | VEP_consequence | missense_variant | ||||||
| VEP_impact | MODERATE | ||||||||
| HGVSc | ZK792.6.1:c.266C>T | ||||||||
| HGVSp | CE03827:p.Ser89Phe | ||||||||
| cDNA_position | 277 | ||||||||
| CDS_position | 266 | ||||||||
| Protein_position | 89 | ||||||||
| Exon_number | 3/6 | ||||||||
| Codon_change | tCt/tTt | ||||||||
| Amino_acid_change | S/F | ||||||||
| Genetics | Interpolated_map_position | IV | 5.21005 | ||||||
| Mapping_data | In_multi_point | 1640 | |||||||
| In_pos_neg_data | 4716 | ||||||||
| 4717 | |||||||||
| Description | Phenotype | WBPhenotype:0000062 | Paper_evidence | WBPaper00001485 | |||||
| Curator_confirmed | WBPerson625 | ||||||||
| Remark | recessive lethal | Paper_evidence | WBPaper00001485 | ||||||
| Curator_confirmed | WBPerson625 | ||||||||
| Recessive | Paper_evidence | WBPaper00001485 | |||||||
| Curator_confirmed | WBPerson625 | ||||||||
| WBPhenotype:0000698 | Paper_evidence | WBPaper00001485 | |||||||
| Curator_confirmed | WBPerson625 | ||||||||
| Remark | vulvaless (dominant) | Paper_evidence | WBPaper00001485 | ||||||
| Curator_confirmed | WBPerson625 | ||||||||
| Dominant | Paper_evidence | WBPaper00001485 | |||||||
| Curator_confirmed | WBPerson625 | ||||||||
| EQ_annotations | Anatomy_term | WBbt:0006748 | PATO:0000460 | Paper_evidence | WBPaper00001485 | ||||
| Curator_confirmed | WBPerson625 | ||||||||
| Phenotype_not_observed | WBPhenotype:0000039 | Paper_evidence | WBPaper00002935 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Remark | sy100 did not affect life span. | Paper_evidence | WBPaper00002935 | ||||||
| Curator_confirmed | WBPerson712 | ||||||||
| Reference | WBPaper00002935 | ||||||||
| WBPaper00013922 | |||||||||
| WBPaper00014830 | |||||||||
| WBPaper00017755 | |||||||||
| WBPaper00001485 | |||||||||
| Method | Substitution_allele |
