RGD:15154794 Rat Genome Database

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Variant: RGD:15154794 -  Homo sapiens

RGD ID: 15154794
RS ID: rs769357518
ClinVar ID: CV731626
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC114827827  NPPA  NPPA-AS1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 11,907,461
GRCh38 1 11,847,404
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006172.4:c.159A>G
NG_012926.1:g.5380A>G
NG_065183.1:g.686T>C
NC_000001.11:g.11847404T>C
More... 		02/20/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NPPA
Accession:NM_006172
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 53
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSFSTTTVSFLLLLAFQLLGQTRANPMYNAVSNADLMDFKNLLDHLEEKMPFEDEVVPPQVLSEPNEEAGAALSPLPEV
PPWTGEVSPAQRDGGALGRGPWDSSDRSALLKSKLRALLTAPRSLRRSSCFGGRMDRIGAQSGLGCNSFRY*

Gene Symbol:NPPA-AS1
Accession:NR_037806
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000902021 CLINVAR
dbSNP (RS) rs769357518 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene 114827827 CLINVAR
  NPPA CLINVAR
  NPPA-AS1 CLINVAR
OMIM 108780 CLINVAR