WormBase Tree Display for Variation: WBVar00090755
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| WBVar00090755 | Evidence | Paper_evidence | WBPaper00013412 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | n3708 | |||||
| Other_name | CE53987:p.Arg1250Ter | ||||||
| C47D12.1c.1:c.3748C>T | |||||||
| C47D12.1b.1:c.3766C>T | |||||||
| CE53926:p.Arg1256Ter | |||||||
| CE53895:p.Arg1256Ter | |||||||
| C47D12.1a.1:c.3766C>T | |||||||
| HGVSg | CHROMOSOME_II:g.11671741G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | C47D12 | |||
| Flanking_sequences | tctgcatacgattgtctcaagaaaatgatg | gagtctatttcatcaaagaagaaggccaag | |||||
| Mapping_target | C47D12 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00013412 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | MT | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00007028 | |||||
| Transcript | C47D12.1c.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | C47D12.1c.1:c.3748C>T | ||||||
| HGVSp | CE53987:p.Arg1250Ter | ||||||
| cDNA_position | 3748 | ||||||
| CDS_position | 3748 | ||||||
| Protein_position | 1250 | ||||||
| Exon_number | 8/22 | ||||||
| Codon_change | Cga/Tga | ||||||
| Amino_acid_change | R/* | ||||||
| C47D12.1a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C47D12.1a.1:c.3766C>T | ||||||
| HGVSp | CE53926:p.Arg1256Ter | ||||||
| cDNA_position | 3837 | ||||||
| CDS_position | 3766 | ||||||
| Protein_position | 1256 | ||||||
| Exon_number | 9/24 | ||||||
| Codon_change | Cga/Tga | ||||||
| Amino_acid_change | R/* | ||||||
| C47D12.1b.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C47D12.1b.1:c.3766C>T | ||||||
| HGVSp | CE53895:p.Arg1256Ter | ||||||
| cDNA_position | 3766 | ||||||
| CDS_position | 3766 | ||||||
| Protein_position | 1256 | ||||||
| Exon_number | 8/23 | ||||||
| Codon_change | Cga/Tga | ||||||
| Amino_acid_change | R/* | ||||||
| Genetics | Interpolated_map_position | II | 3.91426 | ||||
| Reference | WBPaper00013412 | ||||||
| Method | Substitution_allele |
