WormBase Tree Display for Variation: WBVar00143000
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WBVar00143000 | Evidence | Paper_evidence | WBPaper00003350 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | e156 | ||||||
Other_name | Y37D8A.23a.1:c.1148G>A | |||||||
Y37D8A.23c.1:c.923G>A | ||||||||
CE20226:p.Trp383Ter | ||||||||
Y37D8A.23b.1:c.1148G>A | ||||||||
CE32012:p.Trp308Ter | ||||||||
CE31832:p.Trp383Ter | ||||||||
HGVSg | CHROMOSOME_III:g.12948395G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | Y37D8A | ||||
Flanking_sequences | acaatgatgttttcaagctttggttgatgt | gaagagcaagggaatggagggatatcgtca | ||||||
Mapping_target | Y37D8A | |||||||
Type_of_mutation | Substitution | G | A | Paper_evidence | WBPaper00003350 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain (22) | ||||||||
Laboratory (2) | ||||||||
Status | Live | |||||||
Affects | Gene | WBGene00006762 | ||||||
Transcript | Y37D8A.23c.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | |||||||
HGVSc | Y37D8A.23c.1:c.923G>A | |||||||
HGVSp | CE32012:p.Trp308Ter | |||||||
cDNA_position | 923 | |||||||
CDS_position | 923 | |||||||
Protein_position | 308 | |||||||
Exon_number | 4/6 | |||||||
Codon_change | tGg/tAg | |||||||
Amino_acid_change | W/* | |||||||
Y37D8A.23b.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | Y37D8A.23b.1:c.1148G>A | |||||||
HGVSp | CE31832:p.Trp383Ter | |||||||
cDNA_position | 1148 | |||||||
CDS_position | 1148 | |||||||
Protein_position | 383 | |||||||
Exon_number | 6/9 | |||||||
Codon_change | tGg/tAg | |||||||
Amino_acid_change | W/* | |||||||
Y37D8A.23a.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | Y37D8A.23a.1:c.1148G>A | |||||||
HGVSp | CE20226:p.Trp383Ter | |||||||
cDNA_position | 1158 | |||||||
CDS_position | 1148 | |||||||
Protein_position | 383 | |||||||
Exon_number | 7/10 | |||||||
Codon_change | tGg/tAg | |||||||
Amino_acid_change | W/* | |||||||
Interactor | WBInteraction000001428 | |||||||
WBInteraction000517365 | ||||||||
WBInteraction000517573 | ||||||||
WBInteraction000555296 | ||||||||
WBInteraction000558065 | ||||||||
WBInteraction000558066 | ||||||||
Genetics | Interpolated_map_position | III | 20.6631 | |||||
Mapping_data | In_2_point | 57 | ||||||
68 | ||||||||
78 | ||||||||
6019 | ||||||||
6109 | ||||||||
7009 | ||||||||
7010 | ||||||||
In_multi_point (32) | ||||||||
In_pos_neg_data | 354 | |||||||
Description | Phenotype (22) | |||||||
Phenotype_not_observed | WBPhenotype:0001426 | Paper_evidence | WBPaper00004883 | |||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Genotype | arIs37 | Paper_evidence | WBPaper00004883 | ||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0001645 | Paper_evidence | WBPaper00040284 | ||||||
Curator_confirmed | WBPerson2987 | |||||||
Remark | Table S2 | Paper_evidence | WBPaper00040284 | |||||
Curator_confirmed | WBPerson2987 | |||||||
Disease_info | Models_disease | DOID:1826 | ||||||
Models_disease_in_annotation | WBDOannot00000549 | |||||||
Reference (23) | ||||||||
Method | Substitution_allele |