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WormBase Tree Display for Variation: WBVar00089001

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Name Class

WBVar00089001EvidencePerson_evidenceWBPerson552
NamePublic_namemn19
Other_nameCE37536:p.Ser840Asn
K08F8.6.1:c.2519G>A
HGVSgCHROMOSOME_II:g.8774374G>A
Sequence_detailsSMapS_parentSequenceK08F8
Flanking_sequencesaatggttgaagaaagcaagaaggaaagttacaaacaacagataaagaaggcggggcagta
Mapping_targetK08F8
Type_of_mutationSubstitutionga
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
StrainWBStrain00034213
LaboratorySP
StatusLive
AffectsGeneWBGene00002295
TranscriptK08F8.6.1VEP_consequencemissense_variant
VEP_impactMODERATE
SIFT0.05deleterious_low_confidence
PolyPhen0unknown
HGVScK08F8.6.1:c.2519G>A
HGVSpCE37536:p.Ser840Asn
cDNA_position2621
CDS_position2519
Protein_position840
Exon_number11/22
Codon_changeaGc/aAc
Amino_acid_changeS/N
InteractorWBInteraction000502049
WBInteraction000502050
GeneticsInterpolated_map_positionII0.886834
Mapping_dataIn_multi_point1467
In_pos_neg_data1167
1170
1173
1176
1179
1184
1188
1192
1196
1200
1204
1267
1282
1283
1295
1303
1312
1368
1788
DescriptionPhenotypeWBPhenotype:0000054Person_evidenceWBPerson261
Curator_confirmedWBPerson712
WBPhenotype:0000700Paper_evidenceWBPaper00048990
Curator_confirmedWBPerson3947
WBPhenotype:0000961Paper_evidenceWBPaper00048990
Curator_confirmedWBPerson3947
Phenotype_assayGenotypearIs92 [egl-17::NLS-CFP-lacZ; tax-3::GFP; unc-4(+)]Paper_evidenceWBPaper00048990
Curator_confirmedWBPerson3947
ReferenceWBPaper00048990
RemarkThis allele describes two mutations. A S840N mutation is coupled with a downstream nonsense mutation W2230 to stop (tgg->tga)Person_evidenceWBPerson552
MethodSubstitution_allele