WormBase Tree Display for Variation: WBVar00241554
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| WBVar00241554 | Evidence | Paper_evidence | WBPaper00037788 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | rh142 | |||||
| Other_name | CE48050:p.Gln997Ter | ||||||
| C52E12.2a.1:c.2989C>T | |||||||
| C52E12.2b.1:c.3130C>T | |||||||
| CE47855:p.Gln1044Ter | |||||||
| C52E12.2a.2:c.2989C>T | |||||||
| HGVSg | CHROMOSOME_II:g.7007403C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | C52E12 | |||
| Flanking_sequences | ttttatcatatccaggtatttggacatttc | aaccaaaaagtgaacagttcaatttcgaaa | |||||
| Mapping_target | C52E12 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00037788 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00028847 | ||||||
| Laboratory | NJ | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006831 | |||||
| Transcript | C52E12.2a.2 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | C52E12.2a.2:c.2989C>T | ||||||
| HGVSp | CE48050:p.Gln997Ter | ||||||
| cDNA_position | 2991 | ||||||
| CDS_position | 2989 | ||||||
| Protein_position | 997 | ||||||
| Exon_number | 18/24 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| C52E12.2b.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C52E12.2b.1:c.3130C>T | ||||||
| HGVSp | CE47855:p.Gln1044Ter | ||||||
| cDNA_position | 3330 | ||||||
| CDS_position | 3130 | ||||||
| Protein_position | 1044 | ||||||
| Exon_number | 19/25 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| C52E12.2a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C52E12.2a.1:c.2989C>T | ||||||
| HGVSp | CE48050:p.Gln997Ter | ||||||
| cDNA_position | 3125 | ||||||
| CDS_position | 2989 | ||||||
| Protein_position | 997 | ||||||
| Exon_number | 18/24 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| Genetics | Interpolated_map_position | II | 0.244357 | ||||
| Mapping_data | In_2_point | 6169 | |||||
| In_multi_point | 2424 | ||||||
| Description (2) | |||||||
| Reference | WBPaper00014849 | ||||||
| WBPaper00039901 | |||||||
| WBPaper00001424 | |||||||
| WBPaper00014401 | |||||||
| WBPaper00037788 | |||||||
| Method | Substitution_allele |
