WormBase Tree Display for Variation: WBVar01473927
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| WBVar01473927 | Evidence | Paper_evidence | WBPaper00004239 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | h791 | |||||
| Other_name (21) | |||||||
| HGVSg | CHROMOSOME_I:g.6343437T>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | K04F10 | |||
| Flanking_sequences | atttaattgttttagacatggtacaagatg | gctggagaagtagctgcactcgccggaaac | |||||
| Mapping_target | K04F10 | ||||||
| Type_of_mutation | Substitution | t | a | Paper_evidence | WBPaper00004239 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | KR | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00000254 | |||||
| Transcript | K04F10.4j.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | K04F10.4j.1:c.735T>A | ||||||
| HGVSp | CE51107:p.Cys245Ter | ||||||
| cDNA_position | 895 | ||||||
| CDS_position | 735 | ||||||
| Protein_position | 245 | ||||||
| Exon_number | 7/15 | ||||||
| Codon_change | tgT/tgA | ||||||
| Amino_acid_change | C/* | ||||||
| K04F10.4g.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | K04F10.4g.1:c.735T>A | ||||||
| HGVSp | CE51093:p.Cys245Ter | ||||||
| cDNA_position | 899 | ||||||
| CDS_position | 735 | ||||||
| Protein_position | 245 | ||||||
| Exon_number | 7/15 | ||||||
| Codon_change | tgT/tgA | ||||||
| Amino_acid_change | C/* | ||||||
| K04F10.4f.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | K04F10.4f.1:c.735T>A | ||||||
| HGVSp | CE33136:p.Cys245Ter | ||||||
| cDNA_position | 900 | ||||||
| CDS_position | 735 | ||||||
| Protein_position | 245 | ||||||
| Exon_number | 7/14 | ||||||
| Codon_change | tgT/tgA | ||||||
| Amino_acid_change | C/* | ||||||
| K04F10.4d.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | K04F10.4d.1:c.735T>A | ||||||
| HGVSp | CE11734:p.Cys245Ter | ||||||
| cDNA_position | 899 | ||||||
| CDS_position | 735 | ||||||
| Protein_position | 245 | ||||||
| Exon_number | 7/20 | ||||||
| Codon_change | tgT/tgA | ||||||
| Amino_acid_change | C/* | ||||||
| K04F10.4e.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | K04F10.4e.1:c.735T>A | ||||||
| HGVSp | CE51144:p.Cys245Ter | ||||||
| cDNA_position | 735 | ||||||
| CDS_position | 735 | ||||||
| Protein_position | 245 | ||||||
| Exon_number | 5/12 | ||||||
| Codon_change | tgT/tgA | ||||||
| Amino_acid_change | C/* | ||||||
| K04F10.4h.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | K04F10.4h.1:c.735T>A | ||||||
| HGVSp | CE51059:p.Cys245Ter | ||||||
| cDNA_position | 895 | ||||||
| CDS_position | 735 | ||||||
| Protein_position | 245 | ||||||
| Exon_number | 7/15 | ||||||
| Codon_change | tgT/tgA | ||||||
| Amino_acid_change | C/* | ||||||
| K04F10.4i.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | K04F10.4i.1:c.735T>A | ||||||
| HGVSp | CE51132:p.Cys245Ter | ||||||
| cDNA_position | 735 | ||||||
| CDS_position | 735 | ||||||
| Protein_position | 245 | ||||||
| Exon_number | 5/12 | ||||||
| Codon_change | tgT/tgA | ||||||
| Amino_acid_change | C/* | ||||||
| K04F10.4d.2 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | K04F10.4d.2:c.735T>A | ||||||
| HGVSp | CE11734:p.Cys245Ter | ||||||
| cDNA_position | 943 | ||||||
| CDS_position | 735 | ||||||
| Protein_position | 245 | ||||||
| Exon_number | 6/19 | ||||||
| Codon_change | tgT/tgA | ||||||
| Amino_acid_change | C/* | ||||||
| K04F10.4b.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | K04F10.4b.1:c.735T>A | ||||||
| HGVSp | CE11730:p.Cys245Ter | ||||||
| cDNA_position | 735 | ||||||
| CDS_position | 735 | ||||||
| Protein_position | 245 | ||||||
| Exon_number | 5/13 | ||||||
| Codon_change | tgT/tgA | ||||||
| Amino_acid_change | C/* | ||||||
| K04F10.4c.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | K04F10.4c.1:c.735T>A | ||||||
| HGVSp | CE11732:p.Cys245Ter | ||||||
| cDNA_position | 881 | ||||||
| CDS_position | 735 | ||||||
| Protein_position | 245 | ||||||
| Exon_number | 7/17 | ||||||
| Codon_change | tgT/tgA | ||||||
| Amino_acid_change | C/* | ||||||
| K04F10.4a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | K04F10.4a.1:c.735T>A | ||||||
| HGVSp | CE11728:p.Cys245Ter | ||||||
| cDNA_position | 893 | ||||||
| CDS_position | 735 | ||||||
| Protein_position | 245 | ||||||
| Exon_number | 7/15 | ||||||
| Codon_change | tgT/tgA | ||||||
| Amino_acid_change | C/* | ||||||
| Genetics | Interpolated_map_position | I | 1.01998 | ||||
| Reference | WBPaper00004239 | ||||||
| Method | Substitution_allele |
