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WormBase Tree Display for Variation: WBVar00146656

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Name Class

WBVar00146656EvidencePaper_evidenceWBPaper00045317
NamePublic_nameh733
Other_nameCE08098:p.Gln751Ter
C10H11.9.1:c.2251C>T
HGVSgCHROMOSOME_I:g.4741261G>A
Sequence_detailsSMapS_parentSequenceC10H11
Flanking_sequencesCTCTCCTTATCAGCTACCAGAAGATTTTCCTCCAAAGTTTAGTCTTCATCTTCTCATTCTCAAGTTCATGTTTAAATCCG
Mapping_targetCHROMOSOME_I
Source_location200CHROMOSOME_I47412624741262
Type_of_mutationSubstitutionGA
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00023857
LaboratoryKR
AnalysisWGS_Rose
StatusLive
AffectsGeneWBGene00002694
TranscriptC10H11.9.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC10H11.9.1:c.2251C>T
HGVSpCE08098:p.Gln751Ter
cDNA_position2311
CDS_position2251
Protein_position751
Exon_number7/13
Codon_changeCaa/Taa
Amino_acid_changeQ/*
GeneticsInterpolated_map_positionI-0.75073
Mapping_dataIn_pos_neg_data6006
6038
DescriptionPhenotypeWBPhenotype:0000056Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
RecessivePaper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
Phenotype_assayGenotypedpy-5 unc-13; sDp2Paper_evidenceWBPaper00002829
Curator_confirmedWBPerson712
WBPhenotype:0000058Paper_evidenceWBPaper00003985
Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000062Paper_evidenceWBPaper00040589
Curator_confirmedWBPerson712
ReferenceWBPaper00040589
WBPaper00002829
WBPaper00000975
WBPaper00003985
WBPaper00000699
WBPaper00045317
MethodSubstitution_allele