WormBase Tree Display for Variation: WBVar00144416
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WBVar00144416 | Evidence | Paper_evidence | WBPaper00002121 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e1946 | |||||
Other_name | CE52672:p.His82Tyr | ||||||
Y47D3A.6a.1:c.244C>T | |||||||
CE52664:p.His82Tyr | |||||||
Y47D3A.6b.1:c.244C>T | |||||||
HGVSg | CHROMOSOME_III:g.11191866G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | Y47D3A | |||
Flanking_sequences | aatttcattcaaagctcagttcccccgtca | atcaaactttgagcaatcctctgcagctga | |||||
Mapping_target | Y47D3A | ||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00002121 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Laboratory | CB | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00006604 | |||||
WBGene00305760 | |||||||
Transcript | Y48A6C.12 | ||||||
Y47D3A.6b.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | ||||||
SIFT | 0 | deleterious_low_confidence | |||||
PolyPhen | 0.816 | possibly_damaging | |||||
HGVSc | Y47D3A.6b.1:c.244C>T | ||||||
HGVSp | CE52664:p.His82Tyr | ||||||
cDNA_position | 382 | ||||||
CDS_position | 244 | ||||||
Protein_position | 82 | ||||||
Exon_number | 5/10 | ||||||
Codon_change | Cat/Tat | ||||||
Amino_acid_change | H/Y | ||||||
Y47D3A.6a.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | ||||||
SIFT | 0 | deleterious_low_confidence | |||||
PolyPhen | 0.816 | possibly_damaging | |||||
HGVSc | Y47D3A.6a.1:c.244C>T | ||||||
HGVSp | CE52672:p.His82Tyr | ||||||
cDNA_position | 382 | ||||||
CDS_position | 244 | ||||||
Protein_position | 82 | ||||||
Exon_number | 5/20 | ||||||
Codon_change | Cat/Tat | ||||||
Amino_acid_change | H/Y | ||||||
Genetics | Interpolated_map_position | III | 6.94321 | ||||
Reference | WBPaper00002121 | ||||||
Method | Substitution_allele |