RGD:151781393 Rat Genome Database

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Variant: RGD:151781393 -  Homo sapiens

RGD ID: 151781393
RS ID: rs1024719173
ClinVar ID: CV1369654
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOG  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 54,671,844
GRCh38 17 56,594,483
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011958.1:g.5785G>C
NC_000017.11:g.56594483G>C
NC_000017.10:g.54671844G>C
NP_005441.1:p.Arg87Pro
More... 		09/15/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:NOG
Accession:NM_005450
Location:EXON
Amino Acid Prediction: R to P (nonsynonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERCPSLGVTLYALVVVLGLRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKDLNETLLRSLLGGHYDPGFMA
TSPPEDPPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEIKGLEFSEGLAQGKKQRLSKKLRRKLQMWLWSQTFCPVLYA
WNDLGSRFWPRYVKVGSCFSKRSCSVPEGMVCKPSKSVHLTVLRWRCQRRGGQRCGWIPIQYPIISECKCSC*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001930475 CLINVAR
  RCV003416595 CLINVAR
dbSNP (RS) rs1024719173 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NOG CLINVAR
OMIM 602991 CLINVAR