WormBase Tree Display for Variation: WBVar02147706
expand all nodes | collapse all nodes | view schema
| WBVar02147706 | Evidence | Paper_evidence | WBPaper00051108 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | k1022 | |||||
| Other_name | CE40074:p.Ser386Phe | ||||||
| F56D12.1a.2:c.1577C>T | |||||||
| F56D12.1a.1:c.1577C>T | |||||||
| F56D12.1d.1:c.1157C>T | |||||||
| CE29047:p.Ser526Phe | |||||||
| F56D12.1b.1:c.*606C>T | |||||||
| HGVSg | CHROMOSOME_II:g.1306500G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | F56D12 | |||
| Flanking_sequences | gccagcagccattcggaggctccagattgt | cggaaccaatgataaggccggtggccccca | |||||
| Mapping_target | F56D12 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00051108 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | MJ | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00000112 | |||||
| Transcript | F56D12.1b.1 | VEP_consequence | 3_prime_UTR_variant | ||||
| VEP_impact | MODIFIER | ||||||
| HGVSc | F56D12.1b.1:c.*606C>T | ||||||
| cDNA_position | 2147 | ||||||
| Exon_number | 8/8 | ||||||
| F56D12.1a.2 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | F56D12.1a.2:c.1577C>T | ||||||
| HGVSp | CE29047:p.Ser526Phe | ||||||
| cDNA_position | 1676 | ||||||
| CDS_position | 1577 | ||||||
| Protein_position | 526 | ||||||
| Exon_number | 9/10 | ||||||
| Codon_change | tCc/tTc | ||||||
| Amino_acid_change | S/F | ||||||
| F56D12.1a.1 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | F56D12.1a.1:c.1577C>T | ||||||
| HGVSp | CE29047:p.Ser526Phe | ||||||
| cDNA_position | 1580 | ||||||
| CDS_position | 1577 | ||||||
| Protein_position | 526 | ||||||
| Exon_number | 8/9 | ||||||
| Codon_change | tCc/tTc | ||||||
| Amino_acid_change | S/F | ||||||
| F56D12.1d.1 | VEP_consequence | missense_variant | |||||
| VEP_impact | MODERATE | ||||||
| HGVSc | F56D12.1d.1:c.1157C>T | ||||||
| HGVSp | CE40074:p.Ser386Phe | ||||||
| cDNA_position | 1157 | ||||||
| CDS_position | 1157 | ||||||
| Protein_position | 386 | ||||||
| Exon_number | 4/4 | ||||||
| Codon_change | tCc/tTc | ||||||
| Amino_acid_change | S/F | ||||||
| Genetics | Interpolated_map_position | II | -15.5103 | ||||
| Reference | WBPaper00051108 | ||||||
| Method | Substitution_allele |
