WormBase Tree Display for Variation: WBVar00296448
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| WBVar00296448 | Evidence | Paper_evidence | WBPaper00036086 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | qd137 | |||||
| Other_name (12) | |||||||
| HGVSg | CHROMOSOME_III:g.4493073G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | C07G2 | |||
| Flanking_sequences | agtatgtcatcttcgggatctgatcaagat | agtctgcagatatgtcaaatgctggatcaa | |||||
| Mapping_target | C07G2 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00036086 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | ZD | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00000223 | |||||
| Transcript | C07G2.2d.4 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | C07G2.2d.4:c.835C>T | ||||||
| HGVSp | CE42659:p.Gln279Ter | ||||||
| cDNA_position | 849 | ||||||
| CDS_position | 835 | ||||||
| Protein_position | 279 | ||||||
| Exon_number | 4/6 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| C07G2.2d.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C07G2.2d.1:c.835C>T | ||||||
| HGVSp | CE42659:p.Gln279Ter | ||||||
| cDNA_position | 996 | ||||||
| CDS_position | 835 | ||||||
| Protein_position | 279 | ||||||
| Exon_number | 6/8 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| C07G2.2b.2 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C07G2.2b.2:c.892C>T | ||||||
| HGVSp | CE19688:p.Gln298Ter | ||||||
| cDNA_position | 916 | ||||||
| CDS_position | 892 | ||||||
| Protein_position | 298 | ||||||
| Exon_number | 5/8 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| C07G2.2b.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C07G2.2b.1:c.892C>T | ||||||
| HGVSp | CE19688:p.Gln298Ter | ||||||
| cDNA_position | 994 | ||||||
| CDS_position | 892 | ||||||
| Protein_position | 298 | ||||||
| Exon_number | 6/9 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| C07G2.2d.3 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C07G2.2d.3:c.835C>T | ||||||
| HGVSp | CE42659:p.Gln279Ter | ||||||
| cDNA_position | 1108 | ||||||
| CDS_position | 835 | ||||||
| Protein_position | 279 | ||||||
| Exon_number | 5/7 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| C07G2.2a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C07G2.2a.1:c.892C>T | ||||||
| HGVSp | CE33597:p.Gln298Ter | ||||||
| cDNA_position | 994 | ||||||
| CDS_position | 892 | ||||||
| Protein_position | 298 | ||||||
| Exon_number | 6/9 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| C07G2.2c.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C07G2.2c.1:c.1039C>T | ||||||
| HGVSp | CE33598:p.Gln347Ter | ||||||
| cDNA_position | 1111 | ||||||
| CDS_position | 1039 | ||||||
| Protein_position | 347 | ||||||
| Exon_number | 5/8 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| C07G2.2d.2 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C07G2.2d.2:c.835C>T | ||||||
| HGVSp | CE42659:p.Gln279Ter | ||||||
| cDNA_position | 996 | ||||||
| CDS_position | 835 | ||||||
| Protein_position | 279 | ||||||
| Exon_number | 6/7 | ||||||
| Codon_change | Cag/Tag | ||||||
| Amino_acid_change | Q/* | ||||||
| Genetics | Interpolated_map_position | III | -3.15254 | ||||
| Reference | WBPaper00036086 | ||||||
| Method | Substitution_allele |
