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WormBase Tree Display for Variation: WBVar00000049

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Name Class

WBVar00000049EvidencePaper_evidenceWBPaper00027615
NamePublic_namead695
Other_namead695sd
CE31165:p.Ala906Val
C48A7.1b.1:c.2717C>T
CE28820:p.Ala906Val
C48A7.1a.1:c.2717C>T
HGVSgCHROMOSOME_IV:g.7411583C>T
Sequence_detailsSMapS_parentSequenceC48A7
Flanking_sequencesgtgtgctccgtgtgctccgtccacttcgtgaattaaccgagccaagggtttgaaacatgt
Mapping_targetC48A7
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00027615
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00005503
WBStrain00005514
WBStrain00005524
WBStrain00005536
WBStrain00023532
WBStrain00024343
LaboratoryDA
StatusLive
AffectsGeneWBGene00001187
TranscriptC48A7.1a.1 (12)
C48A7.1b.1 (12)
GeneticsInterpolated_map_positionIV3.3345
Mapping_dataIn_multi_point1922
1924
1926
1927
1928
1929
2400
2464
2465
3032
DescriptionPhenotype (13)
Phenotype_not_observedWBPhenotype:0001101Paper_evidenceWBPaper00031871
Curator_confirmedWBPerson712
RemarkAnimals retained more eggs after treatment with dihydropyridine (DHP) analog nemadipine, compared to control animals treated with DMSO alone.Paper_evidenceWBPaper00031871
Curator_confirmedWBPerson712
Variation_effectHypermorph_gain_of_functionPaper_evidenceWBPaper00031871
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00001631Paper_evidenceWBPaper00031871
Curator_confirmedWBPerson712
EQ_annotationsGO_termGO:0018991PATO:0000460Paper_evidenceWBPaper00031871
Curator_confirmedWBPerson712
Phenotype_assayTreatment5uM nemadipine in DMSO or DMSO alonePaper_evidenceWBPaper00031871
Curator_confirmedWBPerson712
WBPhenotype:0001645Paper_evidenceWBPaper00040284
Curator_confirmedWBPerson2987
RemarkTable S2Paper_evidenceWBPaper00040284
Curator_confirmedWBPerson2987
WBPhenotype:0001660Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
RemarkNo disruption of ASE asymmetry (as seen with lim-6 reporters)Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
Phenotype_assayGenotypeotIs114, otIs6Paper_evidenceWBPaper00006052
Curator_confirmedWBPerson2021
Reference (12)
MethodSubstitution_allele