WormBase Tree Display for Variation: WBVar00144485
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WBVar00144485 | Evidence | Paper_evidence | WBPaper00005969 | ||
---|---|---|---|---|---|
Name | Public_name | e2016 | |||
Other_name | CE32938:p.Val92GlufsTer5 | ||||
T22C8.8.1:c.274_373del | |||||
HGVSg | CHROMOSOME_II:g.8637040_8637139del | ||||
Sequence_details | SMap | S_parent | Sequence | T22C8 | |
Flanking_sequences | tatttttcaggattccttaccgcagcagct | gaattgcgacaatgatttctggattttctg | |||
Mapping_target | T22C8 | ||||
Type_of_mutation | Deletion | ||||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin (3) | |||||
Affects | Gene | WBGene00006875 | |||
Transcript | T22C8.8.1 | VEP_consequence | frameshift_variant | ||
VEP_impact | HIGH | ||||
HGVSc | T22C8.8.1:c.274_373del | ||||
HGVSp | CE32938:p.Val92GlufsTer5 | ||||
cDNA_position | 317-416 | ||||
CDS_position | 274-373 | ||||
Protein_position | 92-125 | ||||
Exon_number | 4/6 | ||||
Codon_change | GTTCTTCTCATTGTTGCTCTATTCCTCACTGCACTTTCTACCATTTTCAATATTGTTGGACTCAGCAAATCAGATGTCCGTGGAAAATATCGATGGTACCga/ga | ||||
Amino_acid_change | VLLIVALFLTALSTIFNIVGLSKSDVRGKYRWYR/X | ||||
Interactor | WBInteraction000009165 | ||||
WBInteraction000009166 | |||||
WBInteraction000009167 | |||||
Genetics | Interpolated_map_position | II | 0.829765 | ||
Reference | WBPaper00027244 | ||||
Remark | e2016 is a 100-bp deletion spanning the second intron third exon boundary | Paper_evidence | WBPaper00005969 | ||
Method | Deletion_allele |