WormBase Tree Display for Variation: WBVar02125799
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| WBVar02125799 | Evidence | Paper_evidence | WBPaper00044537 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | ax2013 | |||||
| Other_name | Y48G1A.5a.1:c.2036C>T | ||||||
| CE27001:p.Ser679Leu | |||||||
| HGVSg | CHROMOSOME_I:g.320215G>A | ||||||
| Sequence_details | SMap | S_parent | Sequence | Y48G1A | |||
| Flanking_sequences | ttctgctatccgaacgtctttgggcgagat | agcgaatgttccagcggcactttcggttc | |||||
| Mapping_target | Y48G1A | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00044537 | ||
| SeqStatus | Sequenced | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00022426 | ||||||
| Laboratory | JH | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00002079 | |||||
| Transcript | Y48G1A.5a.1 | VEP_consequence | missense_variant | ||||
| VEP_impact | MODERATE | ||||||
| HGVSc | Y48G1A.5a.1:c.2036C>T | ||||||
| HGVSp | CE27001:p.Ser679Leu | ||||||
| cDNA_position | 2036 | ||||||
| CDS_position | 2036 | ||||||
| Protein_position | 679 | ||||||
| Exon_number | 4/6 | ||||||
| Codon_change | tCa/tTa | ||||||
| Amino_acid_change | S/L | ||||||
| Genetics | Interpolated_map_position | I | -19.0795 | ||||
| Reference | WBPaper00044537 | ||||||
| Method | Substitution_allele |
