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WormBase Tree Display for Variation: WBVar00143348

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Name Class

WBVar00143348EvidencePaper_evidenceWBPaper00031592
Name (3)
Sequence_detailsSMapS_parentSequenceC11D2
Flanking_sequencesattttcagattgtgctctccctgttcgttgcgtaattcttgataacttggaaatggacga
Mapping_targetC11D2
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00031592
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00006352
LaboratoryCB
StatusLive
AffectsGeneWBGene00006809
TranscriptC11D2.6b.1 (12)
C11D2.6i.1 (12)
C11D2.6a.1 (12)
C11D2.6l.1 (12)
C11D2.6e.1 (12)
C11D2.6g.1 (12)
C11D2.6m.1 (12)
C11D2.6k.1 (12)
C11D2.6o.1 (12)
C11D2.6p.1 (12)
C11D2.6f.1VEP_consequencemissense_variant
VEP_impactMODERATE
SIFT0deleterious
PolyPhen0.999probably_damaging
HGVScC11D2.6f.1:c.1748C>T
HGVSpCE48950:p.Ala583Val
cDNA_position1748
CDS_position1748
Protein_position583
Exon_number10/26
Codon_changegCc/gTc
Amino_acid_changeA/V
C11D2.6d.1 (12)
C11D2.6c.1 (12)
C11D2.6h.1 (12)
C11D2.6n.1 (12)
C11D2.6j.1 (12)
GeneticsInterpolated_map_positionIV3.06177
Mapping_dataIn_2_point323
In_multi_point1422
DescriptionPhenotype (27)
Phenotype_not_observedWBPhenotype:0000641Person_evidenceWBPerson261
Curator_confirmedWBPerson712
RemarkactivePerson_evidenceWBPerson261
Curator_confirmedWBPerson712
Disease_infoModels_diseaseDOID:0081048
Models_disease_in_annotationWBDOannot00001105
ReferenceWBPaper00043908
WBPaper00000031
WBPaper00031592
WBPaper00025465
WBPaper00064938
MethodSubstitution_allele