WormBase Tree Display for Variation: WBVar00144317
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WBVar00144317 | Evidence | Paper_evidence | WBPaper00005786 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e1805 | |||||
Other_name | F59C6.7a.1:c.655C>T | ||||||
F59C6.7b.1:c.394C>T | |||||||
CE11472:p.Gln132Ter | |||||||
CE31704:p.Gln219Ter | |||||||
HGVSg | CHROMOSOME_I:g.10507890G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | F59C6 | |||
Flanking_sequences | gaattttgatgagtttcagaagaatccactc | aaagcgttctccaaagcaatacggatgcaat | |||||
Mapping_target | F59C6 | ||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00005786 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00004474 | ||||||
Laboratory | CB | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00000492 | |||||
Transcript | F59C6.7b.1 | VEP_consequence | stop_gained | ||||
VEP_impact | HIGH | ||||||
HGVSc | F59C6.7b.1:c.394C>T | ||||||
HGVSp | CE11472:p.Gln132Ter | ||||||
cDNA_position | 394 | ||||||
CDS_position | 394 | ||||||
Protein_position | 132 | ||||||
Exon_number | 4/6 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
F59C6.7a.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | F59C6.7a.1:c.655C>T | ||||||
HGVSp | CE31704:p.Gln219Ter | ||||||
cDNA_position | 735 | ||||||
CDS_position | 655 | ||||||
Protein_position | 219 | ||||||
Exon_number | 8/11 | ||||||
Codon_change | Caa/Taa | ||||||
Amino_acid_change | Q/* | ||||||
Interactor | WBInteraction000520976 | ||||||
Genetics | Interpolated_map_position | I | 5.05407 | ||||
Mapping_data (3) | |||||||
Description (2) | |||||||
Disease_info | Models_disease | DOID:0060340 | |||||
Models_disease_in_annotation | WBDOannot00000211 | ||||||
Reference | WBPaper00000932 | ||||||
WBPaper00035071 | |||||||
WBPaper00028448 | |||||||
WBPaper00029016 | |||||||
WBPaper00006052 | |||||||
WBPaper00002087 | |||||||
WBPaper00001786 | |||||||
WBPaper00017262 | |||||||
WBPaper00016325 | |||||||
WBPaper00064927 | |||||||
Method | Substitution_allele |