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WormBase Tree Display for Variation: WBVar02145475

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Name Class

WBVar02145475EvidencePaper_evidenceWBPaper00049287
NamePublic_nameea12
Other_nameY39B6A.40b.1:c.59_61delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG
CE34115:p.Ser20LysfsTer33
CE50570:p.Ser20LysfsTer33
Y39B6A.40d.3:c.-80_-78delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG
Y39B6A.40d.2:c.-125_-123delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG
Y39B6A.40d.1:c.-125_-123delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG
Y39B6A.40a.1:c.59_61delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG
HGVSgCHROMOSOME_V:g.18981038_18981040delinsCCTATAGGCTGTTGGTCTGAAGCCATGTGAAGCTCCGCTACCATAGGCACCGCATGCGGTACGGTTTCCAGTCATTCTCATCT
Sequence_detailsSMapS_parentSequenceY39B6A
Flanking_sequencescacttctcgctgtaatttccgaatccagcacagatgactacttagaagccctggccgaga
Mapping_targetY39B6A
Type_of_mutationInsertionagatgagaatgactggaaaccgtaccgcatgcggtgcctatggtagcggagcttcacatggcttcagaccaacagcctatagg
Deletiongct
SeqStatusSequenced
Variation_typeEngineered_allele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00047442
WBStrain00048304
LaboratoryQP
Production_methodCRISPR_Cas9
StatusLive
AffectsGeneWBGene00012698
TranscriptY39B6A.40d.1VEP_consequence5_prime_UTR_variant
VEP_impactMODIFIER
HGVScY39B6A.40d.1:c.-125_-123delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG
cDNA_position69-71
Exon_number2/5
Y39B6A.40d.2VEP_consequence5_prime_UTR_variant
VEP_impactMODIFIER
HGVScY39B6A.40d.2:c.-125_-123delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG
cDNA_position93-95
Exon_number1/4
Y39B6A.40a.1VEP_consequenceframeshift_variant
VEP_impactHIGH
HGVScY39B6A.40a.1:c.59_61delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG
HGVSpCE34115:p.Ser20LysfsTer33
cDNA_position398-400
CDS_position59-61
Protein_position20-21
Exon_number3/6
Codon_changeaGCTca/aAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGGca
Amino_acid_changeSS/KMRMTGNRTACGAYGSGASHGFRPTAYRX
Y39B6A.40b.1VEP_consequenceframeshift_variant
VEP_impactHIGH
HGVScY39B6A.40b.1:c.59_61delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG
HGVSpCE50570:p.Ser20LysfsTer33
cDNA_position59-61
CDS_position59-61
Protein_position20-21
Exon_number2/6
Codon_changeaGCTca/aAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGGca
Amino_acid_changeSS/KMRMTGNRTACGAYGSGASHGFRPTAYRX
Y39B6A.40d.3VEP_consequence5_prime_UTR_variant
VEP_impactMODIFIER
HGVScY39B6A.40d.3:c.-80_-78delinsAGATGAGAATGACTGGAAACCGTACCGCATGCGGTGCCTATGGTAGCGGAGCTTCACATGGCTTCAGACCAACAGCCTATAGG
cDNA_position34-36
Exon_number1/5
DescriptionPhenotypeWBPhenotype:0000031Paper_evidenceWBPaper00049287
Curator_confirmedWBPerson22768
RecessivePaper_evidenceWBPaper00049287
Curator_confirmedWBPerson22768
WBPhenotype:0001175Paper_evidenceWBPaper00049287
Curator_confirmedWBPerson22768
RecessivePaper_evidenceWBPaper00049287
Curator_confirmedWBPerson22768
WBPhenotype:0001256Paper_evidenceWBPaper00049287
Curator_confirmedWBPerson22768
RecessivePaper_evidenceWBPaper00049287
Curator_confirmedWBPerson22768
WBPhenotype:0002436Paper_evidenceWBPaper00049287
Curator_confirmedWBPerson22768
RecessivePaper_evidenceWBPaper00049287
Curator_confirmedWBPerson22768
ReferenceWBPaper00049287
WBPaper00060301
Remarkea12 is a a 3-bp deletion/83-bp insertion in exon 2 just downstream of the predicted Cas9 cleavage sitePaper_evidenceWBPaper00049287
Primers and PCR conditions for genotyping are also provided in Table S5 in WBPaper00060301Paper_evidenceWBPaper00060301
Curator_confirmedWBPerson51134
MethodEngineered_allele