WormBase Tree Display for Variation: WBVar00266620
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WBVar00266620 | Evidence | Paper_evidence | WBPaper00005591 | ||
---|---|---|---|---|---|
Name | Public_name | u247 | |||
Other_name | W02D3.3.3:c.10C>T | ||||
W02D3.3.1:c.10C>T | |||||
CE31080:p.Gln4Ter | |||||
W02D3.3.2:c.10C>T | |||||
HGVSg | CHROMOSOME_I:g.6725176C>T | ||||
Sequence_details | SMap | S_parent | Sequence | W02D3 | |
Flanking_sequences | aggttttctattttacagaaaatgggtctc | aatcggcagctgctcatttcataaatcgtt | |||
Mapping_target | W02D3 | ||||
Type_of_mutation | Substitution | c | t | ||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Laboratory | TU | ||||
Status | Live | ||||
Affects | Gene | WBGene00003170 | |||
Transcript | W02D3.3.1 | VEP_consequence | stop_gained | ||
VEP_impact | HIGH | ||||
HGVSc | W02D3.3.1:c.10C>T | ||||
HGVSp | CE31080:p.Gln4Ter | ||||
cDNA_position | 13 | ||||
CDS_position | 10 | ||||
Protein_position | 4 | ||||
Exon_number | 2/9 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
W02D3.3.3 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | W02D3.3.3:c.10C>T | ||||
HGVSp | CE31080:p.Gln4Ter | ||||
cDNA_position | 86 | ||||
CDS_position | 10 | ||||
Protein_position | 4 | ||||
Exon_number | 3/10 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
W02D3.3.2 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | W02D3.3.2:c.10C>T | ||||
HGVSp | CE31080:p.Gln4Ter | ||||
cDNA_position | 93 | ||||
CDS_position | 10 | ||||
Protein_position | 4 | ||||
Exon_number | 3/10 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
Genetics | Interpolated_map_position | I | 1.29905 | ||
Description | Phenotype (2) | ||||
Disease_info | Modifies_disease | DOID:1289 | |||
Modifies_disease_in_annotation | WBDOannot00000607 | ||||
Reference | WBPaper00005559 | ||||
WBPaper00013936 | |||||
WBPaper00001125 | |||||
WBPaper00010529 | |||||
WBPaper00002482 | |||||
Method | Substitution_allele |