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WormBase Tree Display for Variation: WBVar00146411

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Name Class

WBVar00146411EvidencePaper_evidenceWBPaper00045317
NamePublic_nameh80
Other_nameCE26645:p.Trp105Ter
K06A5.4.1:c.315G>A
HGVSgCHROMOSOME_I:g.6461399G>A
Sequence_detailsSMapS_parentSequenceK06A5
Flanking_sequencesGAATTATTGATGAATTTTCAAATGGAATTCCTGAAAATTGGCCGACCTTATCTATTCCTGCATGTCAGCCAACCAAAGAA
Mapping_targetCHROMOSOME_I
Source_location200CHROMOSOME_I64614016461401
Type_of_mutationSubstitutionGA
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00023680
LaboratoryKR
AnalysisWGS_Rose
StatusLive
AffectsGeneWBGene00019432
TranscriptK06A5.4.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScK06A5.4.1:c.315G>A
HGVSpCE26645:p.Trp105Ter
cDNA_position428
CDS_position315
Protein_position105
Exon_number4/11
Codon_changetgG/tgA
Amino_acid_changeW/*
GeneticsInterpolated_map_positionI1.12356
Mapping_dataIn_2_point2544
In_multi_point1030
In_pos_neg_data (12)
DescriptionPhenotypeWBPhenotype:0000055Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
Phenotype_assayGenotypedpy-5 unc-13; sDp2Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
WBPhenotype:0000057Paper_evidenceWBPaper00003985
Curator_confirmedWBPerson712
WBPhenotype:0000058Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000062Paper_evidenceWBPaper00040589
WBPaper00000975
Curator_confirmedWBPerson712
ReferenceWBPaper00040589
WBPaper00002829
WBPaper00000975
WBPaper00003985
WBPaper00000699
WBPaper00045317
MethodSubstitution_allele