WormBase Tree Display for Variation: WBVar02132247
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WBVar02132247 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h14900 | ||||
Other_name | CE31400:p.Asp228Asn | |||||
B0280.12b.1:c.682G>A | ||||||
CE33547:p.Asp228Asn | ||||||
B0280.12a.1:c.682G>A | ||||||
HGVSg | CHROMOSOME_III:g.7143260C>T | |||||
Sequence_details | SMap | S_parent | Sequence | K04G7 | ||
Flanking_sequences | AGTCAAACTCACATTGGTTCATCAATTTCTTCGGAACTAT | ATTACTTTTTAATGTGTGTTGTGTCGATATTCTCCGATGA | ||||
Mapping_target | CHROMOSOME_III | |||||
Source_location | 200 | CHROMOSOME_III | 7143189 | 7143189 | ||
Type_of_mutation | Substitution | C | T | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023767 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00001613 | ||||
Transcript | B0280.12b.1 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | |||||
SIFT | 0.31 | tolerated | ||||
PolyPhen | 0.017 | benign | ||||
HGVSc | B0280.12b.1:c.682G>A | |||||
HGVSp | CE33547:p.Asp228Asn | |||||
cDNA_position | 809 | |||||
CDS_position | 682 | |||||
Protein_position | 228 | |||||
Exon_number | 8/22 | |||||
Codon_change | Gat/Aat | |||||
Amino_acid_change | D/N | |||||
B0280.12a.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
SIFT | 0.58 | tolerated | ||||
PolyPhen | 0 | benign | ||||
HGVSc | B0280.12a.1:c.682G>A | |||||
HGVSp | CE31400:p.Asp228Asn | |||||
cDNA_position | 764 | |||||
CDS_position | 682 | |||||
Protein_position | 228 | |||||
Exon_number | 8/20 | |||||
Codon_change | Gat/Aat | |||||
Amino_acid_change | D/N | |||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | WGS_Rose |