WormBase Tree Display for Variation: WBVar00143032
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WBVar00143032 | Evidence | Paper_evidence | WBPaper00042458 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e202 | |||||
Other_name | CE44893:p.Asp1091Asn | ||||||
C16D9.2.1:c.3271G>A | |||||||
HGVSg | CHROMOSOME_V:g.8233717C>T | ||||||
Sequence_details | SMap | S_parent | Sequence | C16D9 | |||
Flanking_sequences | ccttatcagtacattgtcaactgcacaaaa | atgatggaagttggattggtggacctgtta | |||||
Mapping_target | C16D9 | ||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00042458 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Laboratory | CB | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00004395 | |||||
Transcript | C16D9.2.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | ||||||
SIFT | 0.22 | tolerated | |||||
PolyPhen | 0.998 | probably_damaging | |||||
HGVSc | C16D9.2.1:c.3271G>A | ||||||
HGVSp | CE44893:p.Asp1091Asn | ||||||
cDNA_position | 3329 | ||||||
CDS_position | 3271 | ||||||
Protein_position | 1091 | ||||||
Exon_number | 17/30 | ||||||
Codon_change | Gat/Aat | ||||||
Amino_acid_change | D/N | ||||||
Genetics | Interpolated_map_position | V | 1.24785 | ||||
Description | Phenotype | WBPhenotype:0000501 | Paper_evidence | WBPaper00001474 | |||
Curator_confirmed | WBPerson712 | ||||||
Phenotype_not_observed | WBPhenotype:0000062 | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
Remark | viable | Person_evidence | WBPerson261 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000688 | Paper_evidence | WBPaper00001474 | |||||
Curator_confirmed | WBPerson712 | ||||||
Reference | WBPaper00017146 | ||||||
WBPaper00042458 | |||||||
WBPaper00001474 | |||||||
Method | Substitution_allele |