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WormBase Tree Display for Variation: WBVar00095012

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Name Class

WBVar00095012EvidencePaper_evidenceWBPaper00024579
NamePublic_nameox196
Other_nameCE31417:p.His214Arg
C17G1.6b.1:c.641A>G
CE38034:p.His214Arg
C17G1.6a.1:c.641A>G
HGVSgCHROMOSOME_X:g.9948097T>C
Sequence_detailsSMapS_parentSequenceC17G1
Flanking_sequencesatgagactctgcacgccttgggactttggccgaacagtcgagagatgatagagacaattt
Mapping_targetC17G1
Type_of_mutationSubstitutionag
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryEG
StatusLive
AffectsGeneWBGene00003553
TranscriptC17G1.6b.1 (12)
C17G1.6a.1 (12)
IsolationMutagenEMS
GeneticsInterpolated_map_positionX1.73126
DescriptionPhenotypeWBPhenotype:0000077Paper_evidenceWBPaper00024579
Curator_confirmedWBPerson48
RemarkAnimals fail to open anterior end of old cuticle and crawl out, and partially shed cuticle forms a tight constriction around the animal.Paper_evidenceWBPaper00024579
Curator_confirmedWBPerson48
PenetranceIncompletePaper_evidenceWBPaper00024579
Curator_confirmedWBPerson48
RecessivePaper_evidenceWBPaper00024579
Curator_confirmedWBPerson48
Variation_effectNullPaper_evidenceWBPaper00024579
Curator_confirmedWBPerson48
EQ_annotationsLife_stageWBls:0000040PATO:0000460Paper_evidenceWBPaper00024579
Curator_confirmedWBPerson48
WBls:0000026PATO:0000460Paper_evidenceWBPaper00024579
Curator_confirmedWBPerson48
WBls:0000029PATO:0000460Paper_evidenceWBPaper00024579
Curator_confirmedWBPerson48
WBls:0000037PATO:0000460Paper_evidenceWBPaper00024579
Curator_confirmedWBPerson48
ReferenceWBPaper00024579
Remarka missense mutation in a His of the catalytic site, same penetrance and phenotype as nonsense and deletion alleles. Likely null.Person_evidenceWBPerson128
MethodSubstitution_allele