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WormBase Tree Display for Variation: WBVar00142820

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Name Class

WBVar00142820EvidencePaper_evidenceWBPaper00005054
NamePublic_namedh10
Other_nameCE30451:p.Glu415Lys
T13C5.1a.1:c.1288G>A
CE27206:p.Glu430Lys
T13C5.1c.1:c.1180G>A
T13C5.1b.1:c.1243G>A
CE53632:p.Glu394Lys
HGVSgCHROMOSOME_X:g.6200074G>A
Sequence_detailsSMapS_parentSequenceT13C5
Flanking_sequencescagacgccgtatgtgagagccactctttcgaaatccaacgtttggctaatgttttgccat
Mapping_targetT13C5
Type_of_mutationSubstitutionga
SeqStatusSequenced
Variation_typeAllele
OriginSpeciesCaenorhabditis elegans
LaboratoryAA
StatusLive
AffectsGeneWBGene00000905
TranscriptT13C5.1c.1 (12)
T13C5.1b.1 (12)
T13C5.1a.1VEP_consequencemissense_variant
VEP_impactMODERATE
SIFT0deleterious
PolyPhen0.999probably_damaging
HGVScT13C5.1a.1:c.1288G>A
HGVSpCE27206:p.Glu430Lys
cDNA_position1349
CDS_position1288
Protein_position430
Exon_number10/13
Codon_changeGaa/Aaa
Amino_acid_changeE/K
GeneticsInterpolated_map_positionX-3.45906
ReferenceWBPaper00005054
MethodSubstitution_allele