RGD:152063712 Rat Genome Database

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Variant: RGD:152063712 -  Homo sapiens

RGD ID: 152063712
RS ID: rs756078666
ClinVar ID: CV1587883
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOG  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 54,671,848
GRCh38 17 56,594,487
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005450.6:c.264C>T
NG_011958.1:g.5789C>T
NC_000017.11:g.56594487C>T
NC_000017.10:g.54671848C>T
More... 		09/09/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NOG
Accession:NM_005450
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 88
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 RCV002090587 CLINVAR
dbSNP (RS) rs756078666 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NOG CLINVAR
OMIM 602991 CLINVAR