RGD:156350378 Rat Genome Database

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Variant: RGD:156350378 -  Homo sapiens

RGD ID: 156350378
ClinVar ID: CV2005675
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WBP2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 73,843,662
GRCh38 17 75,847,581
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330499.2:c.426C>T
NM_001348170.1:c.561C>T
NM_012478.4:c.561C>T
LRG_122:g.2137C>T
More...
12/08/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:WBP2
Accession:NM_012478
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALNKNHSEGGGVIVNNTESILMSYDHVELTFNDMKNVPEAFKGTKKGTVYLTPYRVIFLSKGKDAMQSFMMPFYLMKDC
EIKQPVFGANYIKGTVKAEAGGGWEGSASYKLTFTAGGAIEFGQRMLQVASQASRGEVPSGAYGYSYMPSGAYVYPPPVA
NGMYPCPPGYPYPPPPPEFYPGPPMMDGAMGYVQPPPPPYPGPMEPPVSGPDVPSTPAAEAKAAEAAASAYYNPGNPHNV
YMPTSQPPPPPYYPPEDKKTQ*

Gene Symbol:WBP2
Accession:NM_001348170
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALNKNHSEGGGVIVNNTESILMSYDHVELTFNDMKNVPEAFKGTKKGTVYLTPYRVIFLSKGKDAMQSFMMPFYLMKDC
EIKQPVFGANYIKGTVKAEAGGGWEGSASYKLTFTAGGAIEFGQRMLQVASQASRGEVPSGAYGYSYMPSGAYVYPPPVA
NGMYPCPPGYPYPPPPPEFYPGPPMMDGAMGYVQPPPPPYPGPMEPPVSGPDVPSTPAAEAKAAEAAASAYYNPGNPHNV
YMPTSQPPPPPYYPPEDKKTQ*

Gene Symbol:WBP2
Accession:NM_001330499
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALNKNHSEGGGVIVNNTESILMSYDHVELTFNDMKNVPEAFKGTKKGTVYLTPYRVIFLSKGKDAMQSFMMPFYLMKDC
EIKQPVFGANYIKGTVKAEAGGGWEGSASYKLTFTAGGAIEFGQRMLQVASQEFYPGPPMMDGAMGYVQPPPPPYPGPME
PPVSGPDVPSTPAAEAKAAEAAASAYYNPGNPHNVYMPTSQPPPPPYYPPEDKKTQ*

Gene Symbol:WBP2
Accession:XM_047435712
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 165
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSYDHVELTFNDMKNVPEAFKGTKKGTVYLTPYRVIFLSKGKDAMQSFMMPFYLMKDCEIKQPVFGANYIKGTVKAEAGG
GWEGSASYKLTFTAGGAIEFGQRMLQVASQASRGEVPSGAYGYSYMPSGAYVYPPPVANGMYPCPPGYPYPPPPPEFYPG
PPMMDGAMGYVQPPPPPYPGPMEPPVSGPDVPSTPAAEAKAAEAAASAYYNPGNPHNVYMPTSQPPPPPYYPPEDKKTQ*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002650839 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene WBP2 CLINVAR
OMIM 606962 CLINVAR