WormBase Tree Display for Variation: WBVar00093796
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| WBVar00093796 | Name | Public_name | ok2692 | ||
|---|---|---|---|---|---|
| Other_name | F52H3.4.1:c.116_570delinsA | ||||
| CE37522:p.Arg39LysfsTer4 | |||||
| HGVSg | CHROMOSOME_II:g.10041330_10041784delinsA | ||||
| Sequence_details | SMap | S_parent | Sequence | F52H3 | |
| Flanking_sequences | acgcgactgtcaatttggacgatgatggaa | agtactatgacttcgagttctgctattccg | |||
| Mapping_target | F52H3 | ||||
| Type_of_mutation | Insertion | A | |||
| Deletion | |||||
| PCR_product | ok2692_external | ||||
| ok2692_internal | |||||
| SeqStatus | Sequenced | ||||
| Variation_type | Allele | ||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain | WBStrain00032718 | ||||
| Laboratory | RB | ||||
| Person | WBPerson46 | ||||
| KO_consortium_allele | |||||
| Status | Live | ||||
| Affects | Gene | WBGene00009946 | |||
| Transcript | F52H3.4.1 | VEP_consequence | frameshift_variant | ||
| VEP_impact | HIGH | ||||
| HGVSc | F52H3.4.1:c.116_570delinsA | ||||
| HGVSp | CE37522:p.Arg39LysfsTer4 | ||||
| cDNA_position | 150-604 | ||||
| CDS_position | 116-570 | ||||
| Protein_position | 39-190 | ||||
| Exon_number | 3/6 | ||||
| Codon_change | aGAATCGTAGAATACGACGATGGAGAATTGGAGTTGAGAGAGAATCACAAAAAAGTGAACCCTCAAATGAGTCTTCGAGCTGTCAAGGTGGAAAATGCCGACGAAAATTCAAAGAATAAGGAAGATCCCCAGTCTGTTGTTAAGGAGAAGACAACGACGCGTTTCATCAAGCCGAAAAGTGAATATGTCTCGATATCATCCGATTCTGAAAGCGAAGAAGATTCAGATTCTGAATGTTCAGATTCTGATAGCGTTAACGAGTTCTTCGCATATAAGCCTCCGGAGGCCCCTGAATCAGCCAACTCAATTCTAAAGTCGAGTTCATGCAAGACTGAACAAGAAGACCACGCGGAGATGTTTAATGAAGAGAAACCAGACATCAGTTTGAATAACTCTTCTTCCTTATCGAGCAGCTCAACCACTCTTCAAGGAACCACGGACTTTGTTCCCCCTTCC/aA | ||||
| Amino_acid_change | RIVEYDDGELELRENHKKVNPQMSLRAVKVENADENSKNKEDPQSVVKEKTTTRFIKPKSEYVSISSDSESEEDSDSECSDSDSVNEFFAYKPPEAPESANSILKSSSCKTEQEDHAEMFNEEKPDISLNNSSSLSSSSTTLQGTTDFVPPS/X | ||||
| Isolation | Mutagen | EMS | |||
| Description | Phenotype_not_observed | WBPhenotype:0001175 | Paper_evidence | WBPaper00048917 | |
| Curator_confirmed | WBPerson721 | ||||
| Reference | WBPaper00048917 | ||||
| Remark | Sequenced by the C. elegans Gene Knockout Consortium | Paper_evidence | WBPaper00041807 | ||
| Method | KO_consortium_allele |
