WormBase Tree Display for Variation: WBVar00088320
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WBVar00088320 | Evidence | Paper_evidence | WBPaper00005250 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | ku112 | |||||||
Other_name (12) | |||||||||
HGVSg | CHROMOSOME_IV:g.6743419G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | Y73B6A | |||||
Flanking_sequences | gcgacataattcttccaaaattgactcgtt | tcaatcagctccgaatgttcttcacttaga | |||||||
Mapping_target | Y73B6A | ||||||||
Type_of_mutation | Substitution | c | t | ||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00026502 | ||||||||
Laboratory | MH | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00003030 | |||||||
Transcript | Y73B6A.5c.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | ||||||||
HGVSc | Y73B6A.5c.1:c.2216C>T | ||||||||
HGVSp | CE24638:p.Ser739Phe | ||||||||
cDNA_position | 2364 | ||||||||
CDS_position | 2216 | ||||||||
Protein_position | 739 | ||||||||
Exon_number | 13/14 | ||||||||
Codon_change | tCt/tTt | ||||||||
Amino_acid_change | S/F | ||||||||
Y73B6A.5e.1 | VEP_consequence | missense_variant | |||||||
VEP_impact | MODERATE | ||||||||
HGVSc | Y73B6A.5e.1:c.2165C>T | ||||||||
HGVSp | CE49308:p.Ser722Phe | ||||||||
cDNA_position | 2225 | ||||||||
CDS_position | 2165 | ||||||||
Protein_position | 722 | ||||||||
Exon_number | 13/14 | ||||||||
Codon_change | tCt/tTt | ||||||||
Amino_acid_change | S/F | ||||||||
Y73B6A.5f.1 | VEP_consequence | missense_variant | |||||||
VEP_impact | MODERATE | ||||||||
HGVSc | Y73B6A.5f.1:c.2129C>T | ||||||||
HGVSp | CE49394:p.Ser710Phe | ||||||||
cDNA_position | 2129 | ||||||||
CDS_position | 2129 | ||||||||
Protein_position | 710 | ||||||||
Exon_number | 11/11 | ||||||||
Codon_change | tCt/tTt | ||||||||
Amino_acid_change | S/F | ||||||||
Y73B6A.5b.1 | VEP_consequence | missense_variant | |||||||
VEP_impact | MODERATE | ||||||||
HGVSc | Y73B6A.5b.1:c.2387C>T | ||||||||
HGVSp | CE49395:p.Ser796Phe | ||||||||
cDNA_position | 2387 | ||||||||
CDS_position | 2387 | ||||||||
Protein_position | 796 | ||||||||
Exon_number | 13/14 | ||||||||
Codon_change | tCt/tTt | ||||||||
Amino_acid_change | S/F | ||||||||
Y73B6A.5a.1 | VEP_consequence | missense_variant | |||||||
VEP_impact | MODERATE | ||||||||
HGVSc | Y73B6A.5a.1:c.2261C>T | ||||||||
HGVSp | CE25585:p.Ser754Phe | ||||||||
cDNA_position | 2261 | ||||||||
CDS_position | 2261 | ||||||||
Protein_position | 754 | ||||||||
Exon_number | 12/13 | ||||||||
Codon_change | tCt/tTt | ||||||||
Amino_acid_change | S/F | ||||||||
Y73B6A.5d.1 | VEP_consequence | missense_variant | |||||||
VEP_impact | MODERATE | ||||||||
HGVSc | Y73B6A.5d.1:c.2336C>T | ||||||||
HGVSp | CE49237:p.Ser779Phe | ||||||||
cDNA_position | 2499 | ||||||||
CDS_position | 2336 | ||||||||
Protein_position | 779 | ||||||||
Exon_number | 14/15 | ||||||||
Codon_change | tCt/tTt | ||||||||
Amino_acid_change | S/F | ||||||||
Interactor | WBInteraction000006160 | ||||||||
Genetics | Interpolated_map_position | IV | 3.22424 | ||||||
Description | Phenotype_not_observed | WBPhenotype:0001278 | Paper_evidence | WBPaper00057074 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | had little or no effects on Punc-25GFP expression in RMED/V | Paper_evidence | WBPaper00057074 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Image | WBPicture0000014913 | Paper_evidence | WBPaper00057074 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005027 | PATO:0000460 | Paper_evidence | WBPaper00057074 | ||||
Curator_confirmed | WBPerson712 | ||||||||
WBbt:0005021 | PATO:0000460 | Paper_evidence | WBPaper00057074 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00017754 | ||||||||
WBPaper00025469 | |||||||||
WBPaper00010199 | |||||||||
WBPaper00057074 | |||||||||
Method | Substitution_allele |