WormBase Tree Display for Variation: WBVar02146560
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WBVar02146560 | Evidence | Paper_evidence | WBPaper00041308 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | n2163 | |||||
Other_name | CE45344:p.Arg1316Ter | ||||||
C27H6.1a.1:c.3946C>T | |||||||
C27H6.1c.1:c.2827C>T | |||||||
CE45373:p.Arg1034Ter | |||||||
C27H6.1b.1:c.3100C>T | |||||||
CE45298:p.Arg943Ter | |||||||
HGVSg | CHROMOSOME_V:g.9968413G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | C27H6 | |||
Flanking_sequences | CAGATCAGAAAGCCCGCGTT | GACTCTTTTGTCTTGCATTC | |||||
Mapping_target | C27H6 | ||||||
Type_of_mutation | Substitution | C | T | Paper_evidence | WBPaper00041308 | ||
SeqStatus | Sequenced | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Laboratory | RM | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00006777 | |||||
Transcript | C27H6.1b.1 | VEP_consequence | stop_gained | ||||
VEP_impact | HIGH | ||||||
HGVSc | C27H6.1b.1:c.3100C>T | ||||||
HGVSp | CE45373:p.Arg1034Ter | ||||||
cDNA_position | 3100 | ||||||
CDS_position | 3100 | ||||||
Protein_position | 1034 | ||||||
Exon_number | 7/11 | ||||||
Codon_change | Cga/Tga | ||||||
Amino_acid_change | R/* | ||||||
C27H6.1a.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | C27H6.1a.1:c.3946C>T | ||||||
HGVSp | CE45344:p.Arg1316Ter | ||||||
cDNA_position | 3958 | ||||||
CDS_position | 3946 | ||||||
Protein_position | 1316 | ||||||
Exon_number | 10/14 | ||||||
Codon_change | Cga/Tga | ||||||
Amino_acid_change | R/* | ||||||
C27H6.1c.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | C27H6.1c.1:c.2827C>T | ||||||
HGVSp | CE45298:p.Arg943Ter | ||||||
cDNA_position | 2827 | ||||||
CDS_position | 2827 | ||||||
Protein_position | 943 | ||||||
Exon_number | 5/8 | ||||||
Codon_change | Cga/Tga | ||||||
Amino_acid_change | R/* | ||||||
Genetics | Interpolated_map_position | V | 2.22245 | ||||
Reference | WBPaper00041308 | ||||||
Method | Substitution_allele |