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 | CB | ||||||
OJ | |||||||
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 (7) | ||||||
In_multi_point (32) | |||||||
In_pos_neg_data | 354 | ||||||
Description (2) | |||||||
Disease_info | Models_disease | DOID:1826 | |||||
Models_disease_in_annotation | WBDOannot00000549 | ||||||
Reference (23) | |||||||
Method | Substitution_allele |