RGD:15188448 Rat Genome Database

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Variant: RGD:15188448 -  Homo sapiens

RGD ID: 15188448
RS ID: rs188222100
ClinVar ID: CV735992
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WEE2  WEE2-AS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 141,414,179
GRCh38 7 141,714,379
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001105558.1:c.513T>C
NC_000007.14:g.141714379T>C
NC_000007.13:g.141414179T>C
NP_001099028.1:p.Gly171=
 07/16/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:WEE2
Accession:NM_001105558
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDDKDIDKELRQKLNFSYCEETEIEGQKKVEESREASSQTPEKGEVQDSEAKGTPPWTPLSNVHELDTSSEKDKESPDQI
LRTPVSHPLKCPETPAQPDSRSKLLPSDSPSTPKTMLSRLVISPTGKLPSRGPKHLKLTPAPLKDEMTSLALVNINPFTP
ESYKKLFLQSGGKRKIRGDLEEAGPEEGKGGLPAKRCVLRETNMASRYEKEFLEVEKIGVGEFGTVYKCIKRLDGCVYAI
KRSMKTFTELSNENSALHEVYAHAVLGHHPHVVRYYSSWAEDDHMIIQNEYCNGGSLQAAISENTKSGNHFEEPKLKDIL
LQISLGLNYIHNSSMVHLDIKPSNIFICHKMQSESSGVIEEVENEADWFLSANVMYKIGDLGHATSINKPKVEEGDSRFL
ANEILQEDYRHLPKADIFALGLTIAVAAGAESLPTNGAAWHHIRKGNFPDVPQELSESFSSLLKNMIQPDAEQRPSAAAL
ARNTVLRPSLGKTEELQQQLNLEKFKTATLERELREAQQAQSPQGYTHHGDTGVSGTHTGSRSTKRLVGGKSARSSSFTS
GEREPLH*

Gene Symbol:WEE2-AS1
Accession:NR_015392
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000909372 CLINVAR
dbSNP (RS) rs188222100 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene WEE2 CLINVAR
  WEE2-AS1 CLINVAR
OMIM 614084 CLINVAR