RGD:152068583 Rat Genome Database

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Variant: RGD:152068583 -  Homo sapiens

RGD ID: 152068583
RS ID: rs1054746726
ClinVar ID: CV1654194
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 54,672,010
GRCh38 17 56,594,649
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.56594649G>A
NC_000017.10:g.54672010G>A
NP_005441.1:p.Arg142=
NM_005450.6:c.426G>A
More... 		09/17/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NOG
Accession:NM_005450
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERCPSLGVTLYALVVVLGLRATPAGGQHYLHIRPAPSDNLPLVDLIEHPDPIFDPKEKDLNETLLRSLLGGHYDPGFMA
TSPPEDRPGGGGGAAGGAEDLAELDQLLRQRPSGAMPSEIKGLEFSEGLAQGKKQRLSKKLRRKLQMWLWSQTFCPVLYA
WNDLGSRFWPRYVKVGSCFSKRSCSVPEGMVCKPSKSVHLTVLRWRCQRRGGQRCGWIPIQYPIISECKCSC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002111137 CLINVAR
dbSNP (RS) rs1054746726 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NOG CLINVAR
OMIM 602991 CLINVAR