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WormBase Tree Display for Variation: WBVar00146691

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Name Class

WBVar00146691EvidencePaper_evidenceWBPaper00045317
NamePublic_nameh816
Other_nameY54E10A.2.1:c.364C>T
CE39656:p.Gln122Ter
HGVSgCHROMOSOME_I:g.3235558C>T
Sequence_detailsSMapS_parentSequenceY54E10A
Flanking_sequencesACTGGACGATGTAGTTGCTCTTTGCATGGTGGAGCATCTTAGAAGCAGCTCATCAGTAATCATTCGTCGCCAATGGTCAG
Mapping_targetCHROMOSOME_I
Source_location200CHROMOSOME_I32355593235559
Type_of_mutationSubstitutionCT
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00023886
LaboratoryKR
AnalysisWGS_Rose
StatusLive
AffectsGeneWBGene00003258
TranscriptY54E10A.2.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScY54E10A.2.1:c.364C>T
HGVSpCE39656:p.Gln122Ter
cDNA_position364
CDS_position364
Protein_position122
Exon_number4/16
Codon_changeCag/Tag
Amino_acid_changeQ/*
GeneticsInterpolated_map_positionI-4.45279
DescriptionPhenotypeWBPhenotype:0000057Paper_evidenceWBPaper00003985
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000062Paper_evidenceWBPaper00040589
Curator_confirmedWBPerson712
ReferenceWBPaper00040589
WBPaper00000975
WBPaper00003985
WBPaper00000699
WBPaper00045317
MethodSubstitution_allele