WormBase Tree Display for Variation: WBVar00310966
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| WBVar00310966 | Evidence | Paper_evidence | WBPaper00036201 | ||
|---|---|---|---|---|---|
| Name | Public_name | otn14145 | |||
| Other_name (11) | |||||
| HGVSg | CHROMOSOME_II:g.6930995C>T | ||||
| Sequence_details | SMap | S_parent | Sequence | F22D3 | |
| Flanking_sequences | ACCTTGCCTTCTGTCAAATGATCATCAAACAAAAACGAGCTACATCTCTT | AGAGGTAATTTTTTTCAAAACACAACAAAAAACAACAAAAAAAAATTTTG | |||
| Mapping_target | F22D3 | ||||
| Type_of_mutation | Substitution | C | T | ||
| SeqStatus | Sequenced | ||||
| Variation_type | Allele | ||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain | WBStrain00029567 | ||||
| Laboratory | OTN | ||||
| Analysis | WGS_Hobert | ||||
| Status | Live | ||||
| Affects | Gene | WBGene00017699 | |||
| Transcript | F22D3.2g.1 | VEP_consequence | missense_variant | ||
| VEP_impact | MODERATE | ||||
| HGVSc | F22D3.2g.1:c.359C>T | ||||
| HGVSp | CE48418:p.Ser120Leu | ||||
| cDNA_position | 456 | ||||
| CDS_position | 359 | ||||
| Protein_position | 120 | ||||
| Exon_number | 6/19 | ||||
| Codon_change | tCa/tTa | ||||
| Amino_acid_change | S/L | ||||
| F22D3.2e.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | F22D3.2e.1:c.359C>T | ||||
| HGVSp | CE48451:p.Ser120Leu | ||||
| cDNA_position | 456 | ||||
| CDS_position | 359 | ||||
| Protein_position | 120 | ||||
| Exon_number | 6/19 | ||||
| Codon_change | tCa/tTa | ||||
| Amino_acid_change | S/L | ||||
| F22D3.2d.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | F22D3.2d.1:c.359C>T | ||||
| HGVSp | CE47786:p.Ser120Leu | ||||
| cDNA_position | 456 | ||||
| CDS_position | 359 | ||||
| Protein_position | 120 | ||||
| Exon_number | 6/19 | ||||
| Codon_change | tCa/tTa | ||||
| Amino_acid_change | S/L | ||||
| F22D3.2f.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | F22D3.2f.1:c.359C>T | ||||
| HGVSp | CE48472:p.Ser120Leu | ||||
| cDNA_position | 359 | ||||
| CDS_position | 359 | ||||
| Protein_position | 120 | ||||
| Exon_number | 4/11 | ||||
| Codon_change | tCa/tTa | ||||
| Amino_acid_change | S/L | ||||
| F22D3.2j.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | F22D3.2j.1:c.359C>T | ||||
| HGVSp | CE51723:p.Ser120Leu | ||||
| cDNA_position | 463 | ||||
| CDS_position | 359 | ||||
| Protein_position | 120 | ||||
| Exon_number | 6/19 | ||||
| Codon_change | tCa/tTa | ||||
| Amino_acid_change | S/L | ||||
| Genetics | Map | II | |||
| Reference | WBPaper00036201 | ||||
| Method | WGS_Hobert |
