WormBase Tree Display for Variation: WBVar00146459
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| WBVar00146459 | Name | Public_name | h185 | ||||
|---|---|---|---|---|---|---|---|
| Other_name | C01G8.9a.2:c.1417C>T | ||||||
| C01G8.9c.1:c.1660C>T | |||||||
| C01G8.9d.1:c.1579C>T | |||||||
| CE47756:p.Gln554Ter | |||||||
| CE46280:p.Gln473Ter | |||||||
| CE49657:p.Gln527Ter | |||||||
| C01G8.9a.1:c.1417C>T | |||||||
| HGVSg | CHROMOSOME_I:g.5306286G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | C01G8 | |||
| Flanking_sequences | ccacaacatatgaatgctttctcccctggt | aatatccaggacatcagaggcctccaggtg | |||||
| Mapping_target | C01G8 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00040473 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00023708 | ||||||
| Laboratory | KR | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00002717 | |||||
| Transcript | C01G8.9d.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | C01G8.9d.1:c.1579C>T | ||||||
| HGVSp | CE49657:p.Gln527Ter | ||||||
| cDNA_position | 1988 | ||||||
| CDS_position | 1579 | ||||||
| Protein_position | 527 | ||||||
| Exon_number | 9/15 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| C01G8.9a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C01G8.9a.1:c.1417C>T | ||||||
| HGVSp | CE46280:p.Gln473Ter | ||||||
| cDNA_position | 1864 | ||||||
| CDS_position | 1417 | ||||||
| Protein_position | 473 | ||||||
| Exon_number | 9/16 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| C01G8.9c.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C01G8.9c.1:c.1660C>T | ||||||
| HGVSp | CE47756:p.Gln554Ter | ||||||
| cDNA_position | 1809 | ||||||
| CDS_position | 1660 | ||||||
| Protein_position | 554 | ||||||
| Exon_number | 8/14 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| C01G8.9a.2 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C01G8.9a.2:c.1417C>T | ||||||
| HGVSp | CE46280:p.Gln473Ter | ||||||
| cDNA_position | 1817 | ||||||
| CDS_position | 1417 | ||||||
| Protein_position | 473 | ||||||
| Exon_number | 8/15 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| Genetics | Interpolated_map_position | I | -0.151739 | ||||
| Description | Phenotype | WBPhenotype:0000057 | Paper_evidence | WBPaper00003985 | |||
| Curator_confirmed | WBPerson712 | ||||||
| WBPhenotype:0000062 | Paper_evidence | WBPaper00045317 | |||||
| Person_evidence | WBPerson261 | ||||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00040473 | ||||||
| WBPaper00003985 | |||||||
| WBPaper00021853 | |||||||
| WBPaper00045317 | |||||||
| Method | Substitution_allele |
