WormBase Tree Display for Variation: WBVar00143179
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WBVar00143179 | Evidence | Paper_evidence | WBPaper00002007 | ||
---|---|---|---|---|---|
Name | Public_name | e399 | |||
Other_name | C27H6.1a.1:c.4390C>T | ||||
CE45344:p.Arg1464Ter | |||||
CE45298:p.Arg1091Ter | |||||
C27H6.1c.1:c.3271C>T | |||||
CE45373:p.Arg1182Ter | |||||
C27H6.1b.1:c.3544C>T | |||||
HGVSg | CHROMOSOME_V:g.9967712G>A | ||||
Sequence_details | SMap | S_parent | Sequence | C27H6 | |
Flanking_sequences | CCAATTCCTGAAGCTTGGATTTATTTATTC | GAGAAGAACGTCATTGGGGAGTAGGATCAA | |||
Mapping_target | C27H6 | ||||
Type_of_mutation | Substitution | c | t | ||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Laboratory | CB | ||||
Status | Live | ||||
Affects | Gene | WBGene00006777 | |||
Transcript | C27H6.1b.1 | VEP_consequence | stop_gained | ||
VEP_impact | HIGH | ||||
HGVSc | C27H6.1b.1:c.3544C>T | ||||
HGVSp | CE45373:p.Arg1182Ter | ||||
cDNA_position | 3544 | ||||
CDS_position | 3544 | ||||
Protein_position | 1182 | ||||
Exon_number | 8/11 | ||||
Codon_change | Cga/Tga | ||||
Amino_acid_change | R/* | ||||
C27H6.1a.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | C27H6.1a.1:c.4390C>T | ||||
HGVSp | CE45344:p.Arg1464Ter | ||||
cDNA_position | 4402 | ||||
CDS_position | 4390 | ||||
Protein_position | 1464 | ||||
Exon_number | 11/14 | ||||
Codon_change | Cga/Tga | ||||
Amino_acid_change | R/* | ||||
C27H6.1c.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | C27H6.1c.1:c.3271C>T | ||||
HGVSp | CE45298:p.Arg1091Ter | ||||
cDNA_position | 3271 | ||||
CDS_position | 3271 | ||||
Protein_position | 1091 | ||||
Exon_number | 6/8 | ||||
Codon_change | Cga/Tga | ||||
Amino_acid_change | R/* | ||||
Genetics | Interpolated_map_position | V | 2.22222 | ||
Reference | WBPaper00002007 | ||||
Remark | Molecular details supplied via personal communication | Person_evidence | WBPerson508 | ||
WBPerson3035 | |||||
Method | Substitution_allele |