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WormBase Tree Display for Variation: WBVar00143423

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Name Class

WBVar00143423EvidencePaper_evidenceWBPaper00031829
NamePublic_namee713
Other_name (8)
HGVSgCHROMOSOME_I:g.3825949G>A
Sequence_detailsSMapS_parentSequenceF53F10
Flanking_sequencesgcgtgttcgacattaacaatgaggcaaacgaatcaagttgggaccacagcactctccaag
Mapping_targetF53F10
Type_of_mutationSubstitutiongaPaper_evidenceWBPaper00031829
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00004200
LaboratoryCB
StatusLive
AffectsGeneWBGene00006833
TranscriptF53F10.4d.1 (12)
F53F10.4b.1 (12)
F53F10.4c.1 (12)
F53F10.4a.1VEP_consequencemissense_variant
VEP_impactMODERATE
SIFT0deleterious_low_confidence
PolyPhen0.879possibly_damaging
HGVScF53F10.4a.1:c.551G>A
HGVSpCE10986:p.Gly184Glu
cDNA_position555
CDS_position551
Protein_position184
Exon_number4/5
Codon_changegGa/gAa
Amino_acid_changeG/E
InteractorWBInteraction000503606
GeneticsInterpolated_map_positionI-2.0072
Mapping_data (3)
DescriptionPhenotypeWBPhenotype:0000643Paper_evidenceWBPaper00000031
Curator_confirmedWBPerson48
WBPhenotype:0000646Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Ease_of_scoringES2_Difficult_to_scorePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0001592Person_evidenceWBPerson261
Curator_confirmedWBPerson712
Remarkcan move well both forward and backward but frequently pauses or jams upPerson_evidenceWBPerson261
Curator_confirmedWBPerson712
ReferenceWBPaper00000031
MethodSubstitution_allele