WormBase Tree Display for Variation: WBVar01255491
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WBVar01255491 | Evidence | Paper_evidence | WBPaper00037807 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | WBVar01255491 | |||||
Other_name | CE39403:p.Glu78Asp | ||||||
T12B5.6b.1:c.234A>C | |||||||
CE51680:p.Glu49Asp | |||||||
T12B5.6c.1:c.147A>C | |||||||
HGVSg | CHROMOSOME_III:g.934346T>G | ||||||
Sequence_details | SMap | S_parent | Sequence | T12B5 | |||
Flanking_sequences | TGGATCACATTCGAACTCGAACTGTCATTTTCTGCTGTATTATATATGAT | TCAGTTCCACTCCATATTTCGACTTCATCTTTCCTCAAGTACAAATAGAT | |||||
Mapping_target | T12B5 | ||||||
Type_of_mutation | Substitution | t | G | Paper_evidence | WBPaper00037807 | ||
SeqStatus | Sequenced | ||||||
Variation_type | SNP | ||||||
Natural_variant | |||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00006642 | From_analysis | WGS_De_Bono | ||||
Laboratory | AX | ||||||
Analysis | WGS_De_Bono | ||||||
DB_info | Database | dbSNP_ss | ss | 539091885 | |||
Status | Live | ||||||
Affects | Gene | WBGene00020453 | |||||
Transcript | T12B5.6c.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | ||||||
SIFT | 0.49 | tolerated | |||||
PolyPhen | 0.023 | benign | |||||
HGVSc | T12B5.6c.1:c.147A>C | ||||||
HGVSp | CE51680:p.Glu49Asp | ||||||
cDNA_position | 165 | ||||||
CDS_position | 147 | ||||||
Protein_position | 49 | ||||||
Exon_number | 3/5 | ||||||
Codon_change | gaA/gaC | ||||||
Amino_acid_change | E/D | ||||||
T12B5.6b.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | ||||||
SIFT | 0.5 | tolerated | |||||
PolyPhen | 0.021 | benign | |||||
HGVSc | T12B5.6b.1:c.234A>C | ||||||
HGVSp | CE39403:p.Glu78Asp | ||||||
cDNA_position | 254 | ||||||
CDS_position | 234 | ||||||
Protein_position | 78 | ||||||
Exon_number | 3/5 | ||||||
Codon_change | gaA/gaC | ||||||
Amino_acid_change | E/D | ||||||
Reference | WBPaper00037807 | ||||||
Method | WGS_De_Bono |