WormBase Tree Display for Variation: WBVar02133592
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| WBVar02133592 | Evidence | Paper_evidence | WBPaper00045317 | |||
|---|---|---|---|---|---|---|
| Name | Public_name | h10301 | ||||
| Other_name | C04C3.5c.1:c.664C>T | |||||
| C04C3.5a.2:c.478C>T | ||||||
| C04C3.5a.1:c.478C>T | ||||||
| C04C3.5b.1:c.697C>T | ||||||
| CE38265:p.Gln222Ter | ||||||
| CE16811:p.Gln160Ter | ||||||
| CE38264:p.Gln233Ter | ||||||
| HGVSg | CHROMOSOME_IV:g.3397635G>A | |||||
| Sequence_details | SMap | S_parent | Sequence | C04C3 | ||
| Flanking_sequences | AACCGCTCGTACTCGTCCATATACTGAGGTCGGAAGGACT | TAGCTTTGCGAATCTTTTTTGCAACTGCTCGTACTCTCGC | ||||
| Mapping_target | CHROMOSOME_IV | |||||
| Source_location | 200 | CHROMOSOME_IV | 3397632 | 3397632 | ||
| Type_of_mutation | Substitution | G | A | |||
| SeqStatus | Sequenced | |||||
| Variation_type | Allele | |||||
| Origin | Species | Caenorhabditis elegans | ||||
| Strain | WBStrain00023777 | |||||
| Laboratory | KR | |||||
| Analysis | WGS_Rose | |||||
| Status | Live | |||||
| Affects | Gene | WBGene00001119 | ||||
| Transcript | C04C3.5c.1 | VEP_consequence | stop_gained | |||
| VEP_impact | HIGH | |||||
| HGVSc | C04C3.5c.1:c.664C>T | |||||
| HGVSp | CE38265:p.Gln222Ter | |||||
| cDNA_position | 664 | |||||
| CDS_position | 664 | |||||
| Protein_position | 222 | |||||
| Exon_number | 4/8 | |||||
| Codon_change | Cag/Tag | |||||
| Amino_acid_change | Q/* | |||||
| C04C3.5a.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | |||||
| HGVSc | C04C3.5a.1:c.478C>T | |||||
| HGVSp | CE16811:p.Gln160Ter | |||||
| cDNA_position | 805 | |||||
| CDS_position | 478 | |||||
| Protein_position | 160 | |||||
| Exon_number | 6/11 | |||||
| Codon_change | Cag/Tag | |||||
| Amino_acid_change | Q/* | |||||
| C04C3.5b.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | |||||
| HGVSc | C04C3.5b.1:c.697C>T | |||||
| HGVSp | CE38264:p.Gln233Ter | |||||
| cDNA_position | 697 | |||||
| CDS_position | 697 | |||||
| Protein_position | 233 | |||||
| Exon_number | 5/9 | |||||
| Codon_change | Cag/Tag | |||||
| Amino_acid_change | Q/* | |||||
| C04C3.5a.2 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | |||||
| HGVSc | C04C3.5a.2:c.478C>T | |||||
| HGVSp | CE16811:p.Gln160Ter | |||||
| cDNA_position | 565 | |||||
| CDS_position | 478 | |||||
| Protein_position | 160 | |||||
| Exon_number | 4/9 | |||||
| Codon_change | Cag/Tag | |||||
| Amino_acid_change | Q/* | |||||
| Reference | WBPaper00040589 | |||||
| WBPaper00000975 | ||||||
| WBPaper00003985 | ||||||
| WBPaper00000699 | ||||||
| WBPaper00045317 | ||||||
| Method | WGS_Rose |
