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WormBase Tree Display for Variation: WBVar00242615

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Name Class

WBVar00242615EvidencePaper_evidenceWBPaper00004406
NamePublic_namesa734
Other_nameCE05311:p.Gln52Ter
C26C6.2.1:c.154C>T
HGVSgCHROMOSOME_I:g.7522363C>T
Sequence_detailsSMapS_parentSequenceC26C6
Flanking_sequencesaggagaatcaggaaaatcgactattgtaaaaagatgaagtgagatttttttaaatttctaa
Mapping_targetC26C6
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00004406
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00005663
WBStrain00022814
WBStrain00050175
LaboratoryJT
StatusLive
AffectsGeneWBGene00001648
TranscriptC26C6.2.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC26C6.2.1:c.154C>T
HGVSpCE05311:p.Gln52Ter
cDNA_position248
CDS_position154
Protein_position52
Exon_number2/10
Codon_changeCag/Tag
Amino_acid_changeQ/*
InteractorWBInteraction000052305
WBInteraction000052306
WBInteraction000501257
WBInteraction000501270
WBInteraction000503445
WBInteraction000518036
WBInteraction000518668
GeneticsInterpolated_map_positionI2.09868
DescriptionPhenotype (23)
Phenotype_not_observedWBPhenotype:0000273Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
RemarkAnimals exhibit reduced thrashing compared to wild type animals.Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Variation_effectProbable_null_via_phenotypePaper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0000631Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004251Paper_evidenceWBPaper00035198
Curator_confirmedWBPerson712
WBPhenotype:0002114Paper_evidenceWBPaper00038270
Curator_confirmedWBPerson712
RemarkAnimals do not become paralyzed after 10 minutes of swimming.Paper_evidenceWBPaper00038270
Curator_confirmedWBPerson712
Disease_infoModels_diseaseDOID:0112202
Models_disease_in_annotationWBDOannot00001099
ReferenceWBPaper00038270
WBPaper00043908
WBPaper00035198
WBPaper00027739
WBPaper00004406
WBPaper00032008
WBPaper00054194
WBPaper00065340
MethodSubstitution_allele