Questions, Feedback & Help
Send us an email and we'll get back to you ASAP. Or you can read our Frequently Asked Questions.

WormBase Tree Display for Variation: WBVar01473935

expand all nodes | collapse all nodes | view schema

Name Class

WBVar01473935NamePublic_nameyb1720
Other_nameC17D12.2b.1:c.1063C>T
C17D12.2c.1:c.769C>T
CE36103:p.Gln355Ter
CE50882:p.Gln355Ter
C17D12.2a.1:c.1063C>T
CE50761:p.Gln257Ter
CE50818:p.Gln257Ter
C17D12.2d.1:c.769C>T
HGVSgCHROMOSOME_I:g.11598386C>T
Sequence_detailsSMapS_parentSequenceC17D12
Flanking_sequencesCATGCACAAGTACATCAGCACCAGACTGCTAGGTGACATCGACGGCTTCACATGCTCAGA
Mapping_targetC17D12
Type_of_mutationSubstitutionct
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00023519
LaboratoryKH
StatusLive
AffectsGeneWBGene00006807
TranscriptC17D12.2c.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC17D12.2c.1:c.769C>T
HGVSpCE50818:p.Gln257Ter
cDNA_position769
CDS_position769
Protein_position257
Exon_number3/6
Codon_changeCag/Tag
Amino_acid_changeQ/*
C17D12.2b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC17D12.2b.1:c.1063C>T
HGVSpCE50882:p.Gln355Ter
cDNA_position1063
CDS_position1063
Protein_position355
Exon_number6/8
Codon_changeCag/Tag
Amino_acid_changeQ/*
C17D12.2a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC17D12.2a.1:c.1063C>T
HGVSpCE36103:p.Gln355Ter
cDNA_position1119
CDS_position1063
Protein_position355
Exon_number7/11
Codon_changeCag/Tag
Amino_acid_changeQ/*
C17D12.2d.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScC17D12.2d.1:c.769C>T
HGVSpCE50761:p.Gln257Ter
cDNA_position769
CDS_position769
Protein_position257
Exon_number3/5
Codon_changeCag/Tag
Amino_acid_changeQ/*
IsolationMutagenEMS
GeneticsInterpolated_map_positionI9.28515
DescriptionPhenotypeWBPhenotype:0000643Person_evidenceWBPerson1686
Curator_confirmedWBPerson712
RemarkUncPerson_evidenceWBPerson1686
Curator_confirmedWBPerson712
PenetranceCompletePerson_evidenceWBPerson1686
Curator_confirmedWBPerson712
RecessivePerson_evidenceWBPerson1686
Curator_confirmedWBPerson712
Phenotype_assayGenotypeKH1720 unc-75 (yb1695) I; ybIs1622 [rgef-1::unc-32E7a-EGFP rgef-1::unc-32E7b-mRFP lin-15(+)]/+Person_evidenceWBPerson1686
Curator_confirmedWBPerson712
WBPhenotype:0002119Person_evidenceWBPerson1686
Curator_confirmedWBPerson712
RemarkThe ybIs1622 unc-32 exon 7 alternative splicing reporter expresses Green in the wild-type background but Red in this mutant.Person_evidenceWBPerson1686
Curator_confirmedWBPerson712
PenetranceCompletePerson_evidenceWBPerson1686
Curator_confirmedWBPerson712
RecessivePerson_evidenceWBPerson1686
Curator_confirmedWBPerson712
Phenotype_assayGenotypeKH1720 unc-75 (yb1695) I; ybIs1622 [rgef-1::unc-32E7a-EGFP rgef-1::unc-32E7b-mRFP lin-15(+)]/+Person_evidenceWBPerson1686
Curator_confirmedWBPerson712
MethodSubstitution_allele