WormBase Tree Display for Variation: WBVar02128419
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| WBVar02128419 | Evidence | Paper_evidence | WBPaper00045317 | |||
|---|---|---|---|---|---|---|
| Name | Public_name | h11872 | ||||
| Other_name | R13H8.1f.1:c.32C>T | |||||
| R13H8.1h.1:c.104C>T | ||||||
| CE44821:p.Ser11Leu | ||||||
| CE50870:p.Ser11Leu | ||||||
| R13H8.1i.1:c.32C>T | ||||||
| CE45185:p.Ser35Leu | ||||||
| HGVSg | CHROMOSOME_I:g.10750901C>T | |||||
| Sequence_details | SMap | S_parent | Sequence | H36N01 | ||
| Flanking_sequences | GCGCTTTTTTCGTCTAATTTGCCCAGTTTTCAGCTCGATT | GCCGCTACCATCTGACATCACACTGCACAATCTCGAACCG | ||||
| Mapping_target | CHROMOSOME_I | |||||
| Source_location | 200 | CHROMOSOME_I | 10750890 | 10750890 | ||
| Type_of_mutation | Substitution | C | T | |||
| SeqStatus | Sequenced | |||||
| Variation_type | Allele | |||||
| Origin | Species | Caenorhabditis elegans | ||||
| Strain | WBStrain00023743 | |||||
| Laboratory | KR | |||||
| Analysis | WGS_Rose | |||||
| Status | Live | |||||
| Affects | Gene | WBGene00000912 | ||||
| Transcript | R13H8.1h.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | |||||
| HGVSc | R13H8.1h.1:c.104C>T | |||||
| HGVSp | CE45185:p.Ser35Leu | |||||
| cDNA_position | 104 | |||||
| CDS_position | 104 | |||||
| Protein_position | 35 | |||||
| Exon_number | 3/12 | |||||
| Codon_change | tCg/tTg | |||||
| Amino_acid_change | S/L | |||||
| R13H8.1i.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| HGVSc | R13H8.1i.1:c.32C>T | |||||
| HGVSp | CE50870:p.Ser11Leu | |||||
| cDNA_position | 32 | |||||
| CDS_position | 32 | |||||
| Protein_position | 11 | |||||
| Exon_number | 2/11 | |||||
| Codon_change | tCg/tTg | |||||
| Amino_acid_change | S/L | |||||
| R13H8.1f.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| HGVSc | R13H8.1f.1:c.32C>T | |||||
| HGVSp | CE44821:p.Ser11Leu | |||||
| cDNA_position | 32 | |||||
| CDS_position | 32 | |||||
| Protein_position | 11 | |||||
| Exon_number | 2/13 | |||||
| Codon_change | tCg/tTg | |||||
| Amino_acid_change | S/L | |||||
| Reference | WBPaper00040589 | |||||
| WBPaper00000975 | ||||||
| WBPaper00003985 | ||||||
| WBPaper00000699 | ||||||
| WBPaper00045317 | ||||||
| Method | WGS_Rose |
