WormBase Tree Display for Variation: WBVar02133250
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| WBVar02133250 | Evidence | Paper_evidence | WBPaper00045317 | |||
|---|---|---|---|---|---|---|
| Name | Public_name | h4966 | ||||
| Other_name | Y55F3BR.2c.1:c.848C>T | |||||
| CE48892:p.Ser283Leu | ||||||
| Y55F3BR.2b.1:c.2312C>T | ||||||
| Y55F3BR.2a.1:c.3191C>T | ||||||
| CE49028:p.Ser771Leu | ||||||
| CE48501:p.Ser1064Leu | ||||||
| HGVSg | CHROMOSOME_IV:g.870461C>T | |||||
| Sequence_details | SMap | S_parent | Sequence | Y55F3BR | ||
| Flanking_sequences | TCGGATGACACGTGTCCGGTGGAATTCACATGCCAATGGT | ACTGAATAATCAGAAATATCAGTGCTGTGGGACCAGACCG | ||||
| Mapping_target | CHROMOSOME_IV | |||||
| Source_location | 200 | CHROMOSOME_IV | 870461 | 870461 | ||
| Type_of_mutation | Substitution | C | T | |||
| SeqStatus | Sequenced | |||||
| Variation_type | Allele | |||||
| Origin | Species | Caenorhabditis elegans | ||||
| Strain | WBStrain00023666 | |||||
| Laboratory | KR | |||||
| Analysis | WGS_Rose | |||||
| Status | Live | |||||
| Affects | Gene | WBGene00021939 | ||||
| Transcript | Y55F3BR.2c.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | |||||
| HGVSc | Y55F3BR.2c.1:c.848C>T | |||||
| HGVSp | CE48892:p.Ser283Leu | |||||
| cDNA_position | 848 | |||||
| CDS_position | 848 | |||||
| Protein_position | 283 | |||||
| Exon_number | 2/7 | |||||
| Codon_change | tCa/tTa | |||||
| Amino_acid_change | S/L | |||||
| Y55F3BR.2b.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| HGVSc | Y55F3BR.2b.1:c.2312C>T | |||||
| HGVSp | CE49028:p.Ser771Leu | |||||
| cDNA_position | 2312 | |||||
| CDS_position | 2312 | |||||
| Protein_position | 771 | |||||
| Exon_number | 11/16 | |||||
| Codon_change | tCa/tTa | |||||
| Amino_acid_change | S/L | |||||
| Y55F3BR.2a.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | |||||
| HGVSc | Y55F3BR.2a.1:c.3191C>T | |||||
| HGVSp | CE48501:p.Ser1064Leu | |||||
| cDNA_position | 3193 | |||||
| CDS_position | 3191 | |||||
| Protein_position | 1064 | |||||
| Exon_number | 19/25 | |||||
| Codon_change | tCa/tTa | |||||
| Amino_acid_change | S/L | |||||
| Reference | WBPaper00040589 | |||||
| WBPaper00000975 | ||||||
| WBPaper00003985 | ||||||
| WBPaper00000699 | ||||||
| WBPaper00045317 | ||||||
| Method | WGS_Rose |
