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WormBase Tree Display for Variation: WBVar02127083

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Name Class

WBVar02127083EvidencePaper_evidenceWBPaper00045317
NamePublic_nameh4580
Other_nameCE18135:p.Tyr116Ter
R12E2.3.1:c.348C>G
HGVSgCHROMOSOME_I:g.4175767C>G
Sequence_detailsSMapS_parentSequenceR12E2
Flanking_sequencesTCGACATGGACTATTTGGAGAGCATGTATGGAATGTTCTAAAGGTTGGTGAATTTTGAAATCTCGTTTTTATTTAATTTT
Mapping_targetCHROMOSOME_I
Source_location200CHROMOSOME_I41757684175768
Type_of_mutationSubstitutionCG
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00023661
LaboratoryKR
AnalysisWGS_Rose
StatusLive
AffectsGeneWBGene00004464
TranscriptR12E2.3.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScR12E2.3.1:c.348C>G
HGVSpCE18135:p.Tyr116Ter
cDNA_position352
CDS_position348
Protein_position116
Exon_number4/9
Codon_changetaC/taG
Amino_acid_changeY/*
ReferenceWBPaper00040589
WBPaper00000975
WBPaper00003985
WBPaper00000699
WBPaper00045317
MethodWGS_Rose