WormBase Tree Display for Variation: WBVar00145234
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| WBVar00145234 | Evidence | Paper_evidence | WBPaper00005582 | ||
|---|---|---|---|---|---|
| Name | Public_name | ev480 | |||
| Other_name (11) | |||||
| HGVSg | CHROMOSOME_IV:g.5496903G>A | ||||
| Sequence_details | SMap | S_parent | Sequence | B0273 | |
| Flanking_sequences | caaaatggccttcattgctcattgaaattc | gaccaaaggaaatcaacggctcacagtttt | |||
| Mapping_target | B0273 | ||||
| Type_of_mutation | Substitution | c | t | ||
| SeqStatus | Sequenced | ||||
| Variation_type | Allele | ||||
| Origin | Species | Caenorhabditis elegans | |||
| Laboratory | NW | ||||
| Status | Live | ||||
| Affects | Gene | WBGene00006745 | |||
| Transcript | B0273.4f.1 | VEP_consequence | stop_gained | ||
| VEP_impact | HIGH | ||||
| HGVSc | B0273.4f.1:c.1516C>T | ||||
| HGVSp | CE49300:p.Arg506Ter | ||||
| cDNA_position | 1516 | ||||
| CDS_position | 1516 | ||||
| Protein_position | 506 | ||||
| Exon_number | 3/4 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| B0273.4e.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | B0273.4e.1:c.1801C>T | ||||
| HGVSp | CE49455:p.Arg601Ter | ||||
| cDNA_position | 1801 | ||||
| CDS_position | 1801 | ||||
| Protein_position | 601 | ||||
| Exon_number | 4/5 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| B0273.4c.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | B0273.4c.1:c.2386C>T | ||||
| HGVSp | CE16791:p.Arg796Ter | ||||
| cDNA_position | 2386 | ||||
| CDS_position | 2386 | ||||
| Protein_position | 796 | ||||
| Exon_number | 8/10 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| B0273.4a.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | B0273.4a.1:c.2302C>T | ||||
| HGVSp | CE16790:p.Arg768Ter | ||||
| cDNA_position | 2304 | ||||
| CDS_position | 2302 | ||||
| Protein_position | 768 | ||||
| Exon_number | 8/10 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| B0273.4d.2 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | B0273.4d.2:c.1978C>T | ||||
| HGVSp | CE49241:p.Arg660Ter | ||||
| cDNA_position | 1982 | ||||
| CDS_position | 1978 | ||||
| Protein_position | 660 | ||||
| Exon_number | 6/8 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| B0273.4d.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | B0273.4d.1:c.1978C>T | ||||
| HGVSp | CE49241:p.Arg660Ter | ||||
| cDNA_position | 2181 | ||||
| CDS_position | 1978 | ||||
| Protein_position | 660 | ||||
| Exon_number | 7/9 | ||||
| Codon_change | Cga/Tga | ||||
| Amino_acid_change | R/* | ||||
| Genetics | Interpolated_map_position | IV | 1.752 | ||
| Reference | WBPaper00005582 | ||||
| Method | Substitution_allele |
