WormBase Tree Display for Variation: WBVar00248872
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| WBVar00248872 | Evidence | Paper_evidence | WBPaper00015544 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | su2002 | |||||
| Other_name | F30H5.1.1:c.1676T>C | ||||||
| CE01925:p.Leu559Ser | |||||||
| HGVSg | CHROMOSOME_III:g.497621T>C | ||||||
| Sequence_details | SMap | S_parent | Sequence | F30H5 | |||
| Flanking_sequences | acgcgtgtgaagggctctcctatttgtctt | ggatgctgatgttaaggaatggattgttgat | |||||
| Mapping_target | F30H5 | ||||||
| Type_of_mutation | Substitution | t | c | Paper_evidence | WBPaper00003295 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00033536 | ||||||
| Laboratory | HE | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006781 | |||||
| Transcript | F30H5.1.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | ||||||
| HGVSc | F30H5.1.1:c.1676T>C | ||||||
| HGVSp | CE01925:p.Leu559Ser | ||||||
| cDNA_position | 1678 | ||||||
| CDS_position | 1676 | ||||||
| Protein_position | 559 | ||||||
| Exon_number | 9/13 | ||||||
| Codon_change | tTg/tCg | ||||||
| Amino_acid_change | L/S | ||||||
| Isolation | Mutagen | osmium tetroxide | |||||
| Genetics | Interpolated_map_position | III | -26.8241 | ||||
| Description | Phenotype | WBPhenotype:0000643 | Person_evidence | WBPerson2251 | |||
| Curator_confirmed | WBPerson2021 | ||||||
| Reference | WBPaper00015544 | ||||||
| Method | Substitution_allele |
