WormBase Tree Display for Variation: WBVar02127506
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WBVar02127506 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h7114 | ||||
Other_name | B0207.5b.1:c.4595G>A | |||||
B0207.5a.1:c.4595G>A | ||||||
CE50098:p.Arg1532Lys | ||||||
CE50069:p.Arg1532Lys | ||||||
HGVSg | CHROMOSOME_I:g.5926815G>A | |||||
Sequence_details | SMap | S_parent | Sequence | B0207 | ||
Flanking_sequences | AATAATTGTGGAACACCTAAAAGACCGGAAAAACCAAATA | AGAGGACTGTTATACTGTCAAAATAGAAGAATTGACAGCC | ||||
Mapping_target | CHROMOSOME_I | |||||
Source_location | 200 | CHROMOSOME_I | 5926817 | 5926817 | ||
Type_of_mutation | Substitution | G | A | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023702 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00015028 | ||||
Transcript | B0207.5b.1 (12) | |||||
B0207.5a.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
SIFT | 1 | tolerated_low_confidence | ||||
PolyPhen | 0 | unknown | ||||
HGVSc | B0207.5a.1:c.4595G>A | |||||
HGVSp | CE50098:p.Arg1532Lys | |||||
cDNA_position | 4595 | |||||
CDS_position | 4595 | |||||
Protein_position | 1532 | |||||
Exon_number | 14/26 | |||||
Codon_change | aGa/aAa | |||||
Amino_acid_change | R/K | |||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | WGS_Rose |