WormBase Tree Display for Variation: WBVar00000254
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WBVar00000254 | Evidence | Paper_evidence | WBPaper00006306 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | ar479 | ||||||
Other_name | CE36959:p.Trp87Ter | |||||||
Y39H10A.3a.1:c.405G>A | ||||||||
Y39H10A.3b.1:c.261G>A | ||||||||
CE26073:p.Trp135Ter | ||||||||
HGVSg | CHROMOSOME_V:g.3745224G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | Y39H10A | ||||
Flanking_sequences | ctccccattcacaattctcgacgatggctg | agcgcattcgatctggagcaagagttcgca | ||||||
Mapping_target | Y39H10A | |||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00006306 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00008043 | |||||||
Laboratory | GS | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00003479 | ||||||
Transcript | Y39H10A.3a.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | |||||||
HGVSc | Y39H10A.3a.1:c.405G>A | |||||||
HGVSp | CE26073:p.Trp135Ter | |||||||
cDNA_position | 407 | |||||||
CDS_position | 405 | |||||||
Protein_position | 135 | |||||||
Exon_number | 3/7 | |||||||
Codon_change | tgG/tgA | |||||||
Amino_acid_change | W/* | |||||||
Y39H10A.3b.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | Y39H10A.3b.1:c.261G>A | |||||||
HGVSp | CE36959:p.Trp87Ter | |||||||
cDNA_position | 263 | |||||||
CDS_position | 261 | |||||||
Protein_position | 87 | |||||||
Exon_number | 3/7 | |||||||
Codon_change | tgG/tgA | |||||||
Amino_acid_change | W/* | |||||||
Interactor | WBInteraction000501484 | |||||||
Genetics | Interpolated_map_position | V | -8.0207 | |||||
Description | Phenotype | WBPhenotype:0001426 | Paper_evidence | WBPaper00004883 | ||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Animals had almost no uptake of GFP by coelomocytes. | Paper_evidence | WBPaper00004883 | |||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Genotype | dpy-20(e1282); arIs37[pmyo-3::ssGFP] | Paper_evidence | WBPaper00004883 | ||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_not_observed | WBPhenotype:0000643 | Paper_evidence | WBPaper00004883 | |||||
Curator_confirmed | WBPerson712 | |||||||
Remark | Animals had normal movement. | Paper_evidence | WBPaper00004883 | |||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Genotype | dpy-20(e1282); arIs37[pmyo-3::ssGFP] | Paper_evidence | WBPaper00004883 | ||||
Curator_confirmed | WBPerson712 | |||||||
Disease_info | Models_disease | DOID:14717 | ||||||
Models_disease_in_annotation | WBDOannot00000278 | |||||||
Reference | WBPaper00004883 | |||||||
Method | Substitution_allele |