WormBase Tree Display for Variation: WBVar02129920
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WBVar02129920 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h13562 | ||||
Other_name | CE29162:p.Ala196Val | |||||
ZK622.3a.1:c.560C>T | ||||||
ZK622.3d.3:c.515C>T | ||||||
ZK622.3b.1:c.587C>T | ||||||
CE33504:p.Ala187Val | ||||||
ZK622.3d.2:c.515C>T | ||||||
ZK622.3d.4:c.515C>T | ||||||
ZK622.3d.1:c.515C>T | ||||||
ZK622.3a.2:c.560C>T | ||||||
CE33505:p.Ala172Val | ||||||
HGVSg | CHROMOSOME_II:g.5279661G>A | |||||
Sequence_details | SMap | S_parent | Sequence | ZK622 | ||
Flanking_sequences | GTAGAGAGAAGAGAATCTGTAGTGAGTTGGGTTGGCATTT | CAGTGTCATGCATTGATTTTGCTTTTGATCTTCCTGTGCT | ||||
Mapping_target | CHROMOSOME_II | |||||
Source_location | 200 | CHROMOSOME_II | 5279634 | 5279634 | ||
Type_of_mutation | Substitution | G | A | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023740 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00022781 | ||||
Transcript | ZK622.3b.1 (12) | |||||
ZK622.3d.4 (12) | ||||||
ZK622.3a.2 (12) | ||||||
ZK622.3d.1 (12) | ||||||
ZK622.3d.3 (12) | ||||||
ZK622.3a.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
SIFT | 0.44 | tolerated | ||||
PolyPhen | 0.038 | benign | ||||
HGVSc | ZK622.3a.1:c.560C>T | |||||
HGVSp | CE33504:p.Ala187Val | |||||
cDNA_position | 568 | |||||
CDS_position | 560 | |||||
Protein_position | 187 | |||||
Exon_number | 4/7 | |||||
Codon_change | gCa/gTa | |||||
Amino_acid_change | A/V | |||||
ZK622.3d.2 (12) | ||||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | WGS_Rose |