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WormBase Tree Display for Variation: WBVar00248993

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Name Class

WBVar00248993EvidencePaper_evidenceWBPaper00003592
NamePublic_namesy438
Other_nameC16C2.2b.1:c.1199C>T
CE17404:p.Ser400Phe
CE30491:p.Ser400Phe
C16C2.2a.1:c.1199C>T
C16C2.3a.1:c.-62+3103G>A
HGVSgCHROMOSOME_I:g.9724831C>T
Sequence_detailsSMapS_parentSequenceC16C2
Flanking_sequencescaaaggattcatatccacgtttcgtccgatccaaatctacaaagcagtattgacagcagc
Mapping_targetC16C2
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00003592
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryPS
StatusLive
AffectsGeneWBGene00007620
WBGene00001145
TranscriptC16C2.2b.1VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScC16C2.2b.1:c.1199C>T
HGVSpCE30491:p.Ser400Phe
cDNA_position1287
CDS_position1199
Protein_position400
Exon_number9/12
Codon_changetCc/tTc
Amino_acid_changeS/F
C16C2.2a.1VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScC16C2.2a.1:c.1199C>T
HGVSpCE17404:p.Ser400Phe
cDNA_position1282
CDS_position1199
Protein_position400
Exon_number9/12
Codon_changetCc/tTc
Amino_acid_changeS/F
C16C2.3a.1VEP_consequenceintron_variant
VEP_impactMODIFIER
HGVScC16C2.3a.1:c.-62+3103G>A
Intron_number1/14
GeneticsInterpolated_map_positionI3.86981
DescriptionPhenotypeWBPhenotype:0001618Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RemarkAnimals exhibit an EC50 of ~0.73 for halothane, whereas N2 has an EC50 of ~0.42 vol%, as determined by a concentration-response curve based on animal dispersal indexes.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00001705Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
WBPhenotype:0001619Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RemarkAnimals exhibit an EC50 of ~1.20 for isoflurane, whereas N2 has an EC50 of ~0.75 vol% as determined by a concentration-response curve based on animal dispersal indexes.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Variation_effectHypomorph_reduction_of_functionPaper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Affected_byMoleculeWBMol:00004563Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Phenotype_not_observedWBPhenotype:0000641Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
RemarkAnimals exhibit a similar Dispersal Index (DI) as N2.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
Phenotype_assayTreatmentDispersal assay as reported in Crowder et al.1996; van Swinderen et al. 1997. Disperal measured in air.Paper_evidenceWBPaper00004721
Curator_confirmedWBPerson712
ReferenceWBPaper00004721
MethodSubstitution_allele