WormBase Tree Display for Variation: WBVar02130735
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| WBVar02130735 | Evidence | Paper_evidence | WBPaper00045317 | |||
|---|---|---|---|---|---|---|
| Name | Public_name | h5941 | ||||
| Other_name | C05D12.3c.3:c.2702C>T | |||||
| CE36974:p.Ser901Phe | ||||||
| C05D12.3c.2:c.2702C>T | ||||||
| C05D12.3a.1:c.2702C>T | ||||||
| C05D12.3c.1:c.2702C>T | ||||||
| CE39469:p.Ser901Phe | ||||||
| HGVSg | CHROMOSOME_II:g.11429807C>T | |||||
| Sequence_details | SMap | S_parent | Sequence | C05D12 | ||
| Flanking_sequences | CAGAACACCACCATCTTAAGCCGTGACTCTTCCACATGTT | CTACAACTACATTACTCCTCAAATCACAATTCCTCGGAAC | ||||
| Mapping_target | CHROMOSOME_II | |||||
| Source_location | 200 | CHROMOSOME_II | 11429724 | 11429724 | ||
| Type_of_mutation | Substitution | C | T | |||
| SeqStatus | Sequenced | |||||
| Variation_type | Allele | |||||
| Origin | Species | Caenorhabditis elegans | ||||
| Strain | WBStrain00023685 | |||||
| Laboratory | KR | |||||
| Analysis | WGS_Rose | |||||
| Status | Live | |||||
| Affects | Gene | WBGene00014666 | ||||
| Transcript | C05D12.3a.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | |||||
| HGVSc | C05D12.3a.1:c.2702C>T | |||||
| HGVSp | CE36974:p.Ser901Phe | |||||
| cDNA_position | 2714 | |||||
| CDS_position | 2702 | |||||
| Protein_position | 901 | |||||
| Exon_number | 14/16 | |||||
| Codon_change | tCc/tTc | |||||
| Amino_acid_change | S/F | |||||
| C05D12.3c.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| HGVSc | C05D12.3c.1:c.2702C>T | |||||
| HGVSp | CE39469:p.Ser901Phe | |||||
| cDNA_position | 2717 | |||||
| CDS_position | 2702 | |||||
| Protein_position | 901 | |||||
| Exon_number | 14/18 | |||||
| Codon_change | tCc/tTc | |||||
| Amino_acid_change | S/F | |||||
| C05D12.3c.3 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| HGVSc | C05D12.3c.3:c.2702C>T | |||||
| HGVSp | CE39469:p.Ser901Phe | |||||
| cDNA_position | 2702 | |||||
| CDS_position | 2702 | |||||
| Protein_position | 901 | |||||
| Exon_number | 13/18 | |||||
| Codon_change | tCc/tTc | |||||
| Amino_acid_change | S/F | |||||
| C05D12.3c.2 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| HGVSc | C05D12.3c.2:c.2702C>T | |||||
| HGVSp | CE39469:p.Ser901Phe | |||||
| cDNA_position | 2716 | |||||
| CDS_position | 2702 | |||||
| Protein_position | 901 | |||||
| Exon_number | 14/17 | |||||
| Codon_change | tCc/tTc | |||||
| Amino_acid_change | S/F | |||||
| Reference | WBPaper00040589 | |||||
| WBPaper00000975 | ||||||
| WBPaper00003985 | ||||||
| WBPaper00000699 | ||||||
| WBPaper00045317 | ||||||
| Method | WGS_Rose |
