WormBase Tree Display for Variation: WBVar02138037
expand all nodes | collapse all nodes | view schema
WBVar02138037 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h9138 | ||||
Other_name | Y6G8.2a.1:c.1700G>A | |||||
CE44066:p.Arg567Lys | ||||||
HGVSg | CHROMOSOME_V:g.17594500C>T | |||||
Sequence_details | SMap | S_parent | Sequence | Y6G8 | ||
Flanking_sequences | AGAAATCTCGACATGGGAAAACACAAATACCGTTATCTCC | TTTCTCCAGCGATACACTCCAGATAATCTATGCAAACTGC | ||||
Mapping_target | CHROMOSOME_V | |||||
Source_location | 200 | CHROMOSOME_V | 17594468 | 17594468 | ||
Type_of_mutation | Substitution | C | T | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023683 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00012404 | ||||
Transcript | Y6G8.2a.1 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | |||||
SIFT | 1 | tolerated_low_confidence | ||||
PolyPhen | 0.944 | possibly_damaging | ||||
HGVSc | Y6G8.2a.1:c.1700G>A | |||||
HGVSp | CE44066:p.Arg567Lys | |||||
cDNA_position | 2068 | |||||
CDS_position | 1700 | |||||
Protein_position | 567 | |||||
Exon_number | 7/8 | |||||
Codon_change | aGg/aAg | |||||
Amino_acid_change | R/K | |||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | WGS_Rose |