WormBase Tree Display for Variation: WBVar00000316
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| WBVar00000316 | Evidence | Paper_evidence | WBPaper00005823 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | ax144 | |||||
| Other_name | Y110A7A.17a.1:c.134C>T | ||||||
| CE53900:p.Ala45Val | |||||||
| CE23241:p.Ala45Val | |||||||
| Y110A7A.17b.1:c.134C>T | |||||||
| HGVSg | CHROMOSOME_I:g.5127054G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | Y110A7A | |||
| Flanking_sequences | aaatgatgaagtgttacgcttttgatgatg | tatttttctagccgagcttcattacgaaac | |||||
| Mapping_target | Y110A7A | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00005823 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00006409 | ||||||
| Laboratory | JH | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00003132 | |||||
| Transcript | Y110A7A.17b.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | ||||||
| SIFT | 0 | deleterious | |||||
| PolyPhen | 0.991 | probably_damaging | |||||
| HGVSc | Y110A7A.17b.1:c.134C>T | ||||||
| HGVSp | CE53900:p.Ala45Val | ||||||
| cDNA_position | 148 | ||||||
| CDS_position | 134 | ||||||
| Protein_position | 45 | ||||||
| Exon_number | 2/13 | ||||||
| Codon_change | gCt/gTt | ||||||
| Amino_acid_change | A/V | ||||||
| Y110A7A.17a.1 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| SIFT | 0 | deleterious | |||||
| PolyPhen | 0.991 | probably_damaging | |||||
| HGVSc | Y110A7A.17a.1:c.134C>T | ||||||
| HGVSp | CE23241:p.Ala45Val | ||||||
| cDNA_position | 146 | ||||||
| CDS_position | 134 | ||||||
| Protein_position | 45 | ||||||
| Exon_number | 2/13 | ||||||
| Codon_change | gCt/gTt | ||||||
| Amino_acid_change | A/V | ||||||
| Interactor | WBInteraction000500088 | ||||||
| WBInteraction000500091 | |||||||
| WBInteraction000500094 | |||||||
| Genetics | Interpolated_map_position | I | -0.394912 | ||||
| Description | Phenotype | WBPhenotype:0001216 | Paper_evidence | WBPaper00004484 | |||
| Curator_confirmed | WBPerson205 | ||||||
| Reference | WBPaper00004484 | ||||||
| WBPaper00005823 | |||||||
| Method | Substitution_allele |
