WormBase Tree Display for Variation: WBVar00095097
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| WBVar00095097 | Evidence | Paper_evidence | WBPaper00006369 | ||
|---|---|---|---|---|---|
| Name | Public_name | oz233 | |||
| Other_name | Y53C12B.3b.1:c.925C>T | ||||
| CE54289:p.Gln327Ter | |||||
| CE54262:p.Gln327Ter | |||||
| CE54300:p.Gln193Ter | |||||
| Y53C12B.3a.1:c.925C>T | |||||
| CE19224:p.Gln309Ter | |||||
| Y53C12B.3e.1:c.577C>T | |||||
| Y53C12B.3d.1:c.979C>T | |||||
| CE18413:p.Gln309Ter | |||||
| Y53C12B.3c.1:c.979C>T | |||||
| HGVSg | CHROMOSOME_II:g.9747982C>T | ||||
| Sequence_details | SMap | S_parent | Sequence | Y53C12B | |
| Flanking_sequences | atgatgcctcacaatccacagaatcaacag | agcagcaacaacatccaatgctgtatccaa | |||
| Mapping_target | Y53C12B | ||||
| Type_of_mutation | Substitution | c | t | ||
| SeqStatus | Sequenced | ||||
| Variation_type | Allele | ||||
| Origin | Species | Caenorhabditis elegans | |||
| Laboratory | BS | ||||
| Status | Live | ||||
| Affects | Gene | WBGene00003785 | |||
| Transcript | Y53C12B.3e.1 | VEP_consequence | stop_gained | ||
| VEP_impact | HIGH | ||||
| HGVSc | Y53C12B.3e.1:c.577C>T | ||||
| HGVSp | CE54300:p.Gln193Ter | ||||
| cDNA_position | 577 | ||||
| CDS_position | 577 | ||||
| Protein_position | 193 | ||||
| Exon_number | 3/6 | ||||
| Codon_change | Cag/Tag | ||||
| Amino_acid_change | Q/* | ||||
| Y53C12B.3d.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | Y53C12B.3d.1:c.979C>T | ||||
| HGVSp | CE54289:p.Gln327Ter | ||||
| cDNA_position | 979 | ||||
| CDS_position | 979 | ||||
| Protein_position | 327 | ||||
| Exon_number | 5/9 | ||||
| Codon_change | Cag/Tag | ||||
| Amino_acid_change | Q/* | ||||
| Y53C12B.3b.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | Y53C12B.3b.1:c.925C>T | ||||
| HGVSp | CE18413:p.Gln309Ter | ||||
| cDNA_position | 944 | ||||
| CDS_position | 925 | ||||
| Protein_position | 309 | ||||
| Exon_number | 5/9 | ||||
| Codon_change | Cag/Tag | ||||
| Amino_acid_change | Q/* | ||||
| Y53C12B.3c.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | Y53C12B.3c.1:c.979C>T | ||||
| HGVSp | CE54262:p.Gln327Ter | ||||
| cDNA_position | 1130 | ||||
| CDS_position | 979 | ||||
| Protein_position | 327 | ||||
| Exon_number | 6/10 | ||||
| Codon_change | Cag/Tag | ||||
| Amino_acid_change | Q/* | ||||
| Y53C12B.3a.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | ||||
| HGVSc | Y53C12B.3a.1:c.925C>T | ||||
| HGVSp | CE19224:p.Gln309Ter | ||||
| cDNA_position | 957 | ||||
| CDS_position | 925 | ||||
| Protein_position | 309 | ||||
| Exon_number | 5/9 | ||||
| Codon_change | Cag/Tag | ||||
| Amino_acid_change | Q/* | ||||
| Genetics | Interpolated_map_position | II | 1.7085 | ||
| Reference | WBPaper00006369 | ||||
| Method | Substitution_allele |
