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WormBase Tree Display for Variation: WBVar02149866

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Name Class

WBVar02149866EvidencePerson_evidenceWBPerson31088
NamePublic_namemg584
Other_nameCE30108:p.Pro117Ser
R12B2.5b.2:c.340_342delinsAGT
CE25078:p.Pro114Ser
R12B2.5a.3:c.349_351delinsAGT
R12B2.5a.2:c.349_351delinsAGT
R12B2.5a.1:c.349_351delinsAGT
R12B2.5b.1:c.340_342delinsAGT
HGVSgCHROMOSOME_III:g.5832714_5832716delinsACT
Sequence_detailsSMapS_parentSequenceR12B2
Flanking_sequencesaacaggtggatttcttgcctgagctgatgtttgtggatctggaggcacaggagctcgata
Mapping_targetR12B2
Type_of_mutationSubstitutionTGGACT
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00007967
LaboratoryGR
StatusLive
AffectsGeneWBGene00007016
TranscriptR12B2.5a.2VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScR12B2.5a.2:c.349_351delinsAGT
HGVSpCE30108:p.Pro117Ser
cDNA_position619-621
CDS_position349-351
Protein_position117
Exon_number5/10
Codon_changeCCA/AGT
Amino_acid_changeP/S
R12B2.5b.2VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScR12B2.5b.2:c.340_342delinsAGT
HGVSpCE25078:p.Pro114Ser
cDNA_position605-607
CDS_position340-342
Protein_position114
Exon_number5/9
Codon_changeCCA/AGT
Amino_acid_changeP/S
R12B2.5a.1VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScR12B2.5a.1:c.349_351delinsAGT
HGVSpCE30108:p.Pro117Ser
cDNA_position613-615
CDS_position349-351
Protein_position117
Exon_number5/9
Codon_changeCCA/AGT
Amino_acid_changeP/S
R12B2.5b.1VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScR12B2.5b.1:c.340_342delinsAGT
HGVSpCE25078:p.Pro114Ser
cDNA_position604-606
CDS_position340-342
Protein_position114
Exon_number5/10
Codon_changeCCA/AGT
Amino_acid_changeP/S
R12B2.5a.3VEP_consequencemissense_variant
VEP_impactMODERATE
HGVScR12B2.5a.3:c.349_351delinsAGT
HGVSpCE30108:p.Pro117Ser
cDNA_position576-578
CDS_position349-351
Protein_position117
Exon_number5/10
Codon_changeCCA/AGT
Amino_acid_changeP/S
GeneticsInterpolated_map_positionIII-1.43928
DescriptionPhenotypeWBPhenotype:0001236Paper_evidenceWBPaper00056290
Curator_confirmedWBPerson44544
Remarkexpression of mgIs73[cyp-14A4p::gfp] transgene increasedPaper_evidenceWBPaper00056290
Curator_confirmedWBPerson44544
Phenotype_assayGenotypemgIs73[cyp-14A4p::gfp]Paper_evidenceWBPaper00056290
Curator_confirmedWBPerson44544
ReferenceWBPaper00056290
Remarkalt_det = CCA to AGTPerson_evidenceWBPerson31088
Curator_confirmedWBPerson51134
Variation information submitted by WBPerson31088 on 2021-07-12_10:41:07 via the Allele submission form.Curator_confirmedWBPerson51134
Curated on the positive strand as TGG to ACTCurator_confirmedWBPerson51134
MethodSubstitution_allele