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WormBase Tree Display for Variation: WBVar00146566

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Name Class

WBVar00146566EvidencePerson_evidenceWBPerson301
NamePublic_nameh402
Other_nameF57B10.1.2:c.394C>T
CE37244:p.Gln132Ter
F57B10.1.1:c.394C>T
HGVSgCHROMOSOME_I:g.6580679C>T
Sequence_detailsSMapS_parentSequenceF48A9
Flanking_sequencesTGAAGATCTTATGGATTGCTATCCAAGCATTGATATTCTAAACAAGCATCCGAAGAACTATTATATTCAAAAGACGATGA
Mapping_targetCHROMOSOME_I
Source_location200CHROMOSOME_I65806806580680
Type_of_mutationSubstitutionCT
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00023779
LaboratoryKR
AnalysisWGS_Rose
StatusLive
AffectsGeneWBGene00002783
TranscriptF57B10.1.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScF57B10.1.1:c.394C>T
HGVSpCE37244:p.Gln132Ter
cDNA_position521
CDS_position394
Protein_position132
Exon_number4/10
Codon_changeCaa/Taa
Amino_acid_changeQ/*
F57B10.1.2VEP_consequencestop_gained
VEP_impactHIGH
HGVScF57B10.1.2:c.394C>T
HGVSpCE37244:p.Gln132Ter
cDNA_position610
CDS_position394
Protein_position132
Exon_number3/9
Codon_changeCaa/Taa
Amino_acid_changeQ/*
GeneticsInterpolated_map_positionI1.21661
Mapping_dataIn_pos_neg_data (13)
DescriptionPhenotypeWBPhenotype:0000050Paper_evidenceWBPaper00003985
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000062Paper_evidenceWBPaper00040589
Curator_confirmedWBPerson712
WBPhenotype:0000867Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
Remarkarrest during egg stagePaper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
Phenotype_assayGenotypedpy-5 unc-13; sDp2Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
ReferenceWBPaper00040589
WBPaper00002829
WBPaper00000975
WBPaper00003985
WBPaper00000699
WBPaper00045317
MethodSubstitution_allele