WormBase Tree Display for Variation: WBVar00315028
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WBVar00315028 | Evidence | Paper_evidence | WBPaper00036201 | |||
---|---|---|---|---|---|---|
Name | Public_name | otn18207 | ||||
Other_name (19) | ||||||
HGVSg | CHROMOSOME_IV:g.11981890C>T | |||||
Sequence_details | SMap | S_parent | Sequence | ZK617 | ||
Flanking_sequences | GAACCTTATCCCAAATCTGAGACCCGACTTCTTGATATTCAATTTTGTAT | CAGCGATTTCGGCGCCTCCATCGTCCTTTGGAGCATCCCAATTGAGAGTG | ||||
Mapping_target | ZK617 | |||||
Type_of_mutation | Substitution | C | T | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00029568 | |||||
Laboratory | OTN | |||||
Analysis | WGS_Hobert | |||||
Status | Live | |||||
Affects | Gene | WBGene00006759 | ||||
Transcript | ZK617.1i.1 (11) | |||||
ZK617.1a.1 (11) | ||||||
ZK617.1g.1 (11) | ||||||
ZK617.1f.1 (11) | ||||||
ZK617.1d.1 (11) | ||||||
ZK617.1c.1 (11) | ||||||
ZK617.1h.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
HGVSc | ZK617.1h.1:c.13658G>A | |||||
HGVSp | CE49973:p.Gly4553Glu | |||||
cDNA_position | 13658 | |||||
CDS_position | 13658 | |||||
Protein_position | 4553 | |||||
Exon_number | 30/34 | |||||
Codon_change | gGa/gAa | |||||
Amino_acid_change | G/E | |||||
ZK617.1b.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
HGVSc | ZK617.1b.1:c.13706G>A | |||||
HGVSp | CE33018:p.Gly4569Glu | |||||
cDNA_position | 13706 | |||||
CDS_position | 13706 | |||||
Protein_position | 4569 | |||||
Exon_number | 30/34 | |||||
Codon_change | gGa/gAa | |||||
Amino_acid_change | G/E | |||||
ZK617.1e.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
PolyPhen | 1 | probably_damaging | ||||
HGVSc | ZK617.1e.1:c.11537G>A | |||||
HGVSp | CE44668:p.Gly3846Glu | |||||
cDNA_position | 11537 | |||||
CDS_position | 11537 | |||||
Protein_position | 3846 | |||||
Exon_number | 17/21 | |||||
Codon_change | gGa/gAa | |||||
Amino_acid_change | G/E | |||||
Genetics | Map | IV | ||||
Reference | WBPaper00036201 | |||||
Method | WGS_Hobert |