WormBase Tree Display for Variation: WBVar00946227
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| WBVar00946227 | Name | Public_name | gk562474 | ||
|---|---|---|---|---|---|
| Other_name (14) | |||||
| HGVSg | CHROMOSOME_IV:g.11994865C>T | ||||
| Sequence_details | SMap | S_parent | Sequence | ZK617 | |
| Flanking_sequences | CGATCCACGTCGGAGTTCTCCGAACACGGATCCACGCCGTGACTCGGATT | CGATTGACTGTCATCATCGGCGACGTGTTTTGGCACTGTCGTCACTTTTT | |||
| Mapping_target | ZK617 | ||||
| Type_of_mutation | Substitution | C | T | ||
| SeqStatus | Sequenced | ||||
| Variation_type | Allele | ||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain | WBStrain00039283 | ||||
| Laboratory | VC | ||||
| Analysis | Million_Mutation_Project | ||||
| Status | Live | ||||
| Affects | Gene | WBGene00006759 | |||
| Transcript | ZK617.1i.1 (11) | ||||
| ZK617.1a.1 | VEP_consequence | intron_variant | |||
| VEP_impact | MODIFIER | ||||
| HGVSc | ZK617.1a.1:c.1884+389G>A | ||||
| Intron_number | 14/32 | ||||
| ZK617.1g.1 | VEP_consequence | intron_variant | |||
| VEP_impact | MODIFIER | ||||
| HGVSc | ZK617.1g.1:c.1884+389G>A | ||||
| Intron_number | 13/31 | ||||
| ZK617.1f.1 (11) | |||||
| ZK617.1d.1 | VEP_consequence | intron_variant | |||
| VEP_impact | MODIFIER | ||||
| HGVSc | ZK617.1d.1:c.723+389G>A | ||||
| Intron_number | 4/21 | ||||
| ZK617.1c.1 (11) | |||||
| ZK617.1h.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | ZK617.1h.1:c.2671G>A | ||||
| HGVSp | CE49973:p.Glu891Lys | ||||
| cDNA_position | 2671 | ||||
| CDS_position | 2671 | ||||
| Protein_position | 891 | ||||
| Exon_number | 15/34 | ||||
| Codon_change | Gaa/Aaa | ||||
| Amino_acid_change | E/K | ||||
| ZK617.1b.1 | VEP_consequence | missense_variant | |||
| VEP_impact | MODERATE | ||||
| HGVSc | ZK617.1b.1:c.2746G>A | ||||
| HGVSp | CE33018:p.Glu916Lys | ||||
| cDNA_position | 2746 | ||||
| CDS_position | 2746 | ||||
| Protein_position | 916 | ||||
| Exon_number | 16/34 | ||||
| Codon_change | Gaa/Aaa | ||||
| Amino_acid_change | E/K | ||||
| ZK617.1e.1 | VEP_consequence | intron_variant | |||
| VEP_impact | MODIFIER | ||||
| HGVSc | ZK617.1e.1:c.672+389G>A | ||||
| Intron_number | 3/20 | ||||
| Reference | WBPaper00042537 | ||||
| Method | Million_mutation |
