WormBase Tree Display for Variation: WBVar00089095
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WBVar00089095 | Evidence | Paper_evidence | WBPaper00004421 | |||
---|---|---|---|---|---|---|
Name | Public_name | mn189 | ||||
Other_name | F52H3.1.3:c.2002G>A | |||||
F52H3.1.4:c.2002G>A | ||||||
F52H3.1.2:c.2002G>A | ||||||
CE03397:p.Asp668Asn | ||||||
F52H3.1.1:c.2002G>A | ||||||
HGVSg | CHROMOSOME_II:g.10035319C>T | |||||
Sequence_details | SMap | S_parent | Sequence | F52H3 | ||
Flanking_sequences | ccacatcatgatgcaagcactttcagtatt | atattgcactgaacaagaagggaagagact | ||||
Mapping_target | F52H3 | |||||
Type_of_mutation | Substitution | g | a | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00034198 | |||||
Laboratory | SP | |||||
Status | Live | |||||
Affects | Gene | WBGene00002497 | ||||
Transcript | F52H3.1.3 (12) | |||||
F52H3.1.1 (12) | ||||||
F52H3.1.2 (12) | ||||||
F52H3.1.4 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
SIFT | 1 | tolerated | ||||
PolyPhen | 1 | probably_damaging | ||||
HGVSc | F52H3.1.4:c.2002G>A | |||||
HGVSp | CE03397:p.Asp668Asn | |||||
cDNA_position | 2011 | |||||
CDS_position | 2002 | |||||
Protein_position | 668 | |||||
Exon_number | 9/11 | |||||
Codon_change | Gat/Aat | |||||
Amino_acid_change | D/N | |||||
Genetics | Interpolated_map_position | II | 1.82537 | |||
Description | Phenotype | WBPhenotype:0000054 | Person_evidence | WBPerson261 | ||
Curator_confirmed | WBPerson712 | |||||
Reference | WBPaper00022594 | |||||
Method | Substitution_allele |