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WormBase Tree Display for Variation: WBVar00054127

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Name Class

WBVar00054127EvidencePaper_evidenceWBPaper00002814
NamePublic_namecg57
Other_nameK04H4.1a.1:c.3469C>T
K04H4.1b.1:c.2698C>T
CE48054:p.Gln1157Ter
CE36390:p.Gln900Ter
HGVSgCHROMOSOME_III:g.9339449G>A
Sequence_detailsSMapS_parentSequenceK04H4
Flanking_sequencestctccagggcaaccaggttatcctgggcagaaggacgtgaaggagagaagggatatccag
Mapping_targetK04H4
Type_of_mutationSubstitutionctPaper_evidenceWBPaper00002814
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryCH
StatusLive
AffectsGeneWBGene00001263
TranscriptK04H4.1a.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScK04H4.1a.1:c.3469C>T
HGVSpCE48054:p.Gln1157Ter
cDNA_position3518
CDS_position3469
Protein_position1157
Exon_number11/14
Codon_changeCaa/Taa
Amino_acid_changeQ/*
K04H4.1b.1VEP_consequencestop_gained
VEP_impactHIGH
HGVScK04H4.1b.1:c.2698C>T
HGVSpCE36390:p.Gln900Ter
cDNA_position2698
CDS_position2698
Protein_position900
Exon_number8/10
Codon_changeCaa/Taa
Amino_acid_changeQ/*
GeneticsInterpolated_map_positionIII0.421361
ReferenceWBPaper00002814
MethodSubstitution_allele