RGD:10411850 Rat Genome Database

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Variant: RGD:10411850 -  Homo sapiens

RGD ID: 10411850
RS ID: rs34995284
ClinVar ID: CV205528
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAP1L2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 72,433,821
GRCh38 X 73,213,985
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013274.1:g.5864T>C
NC_000023.11:g.73213985A>G
NC_000023.10:g.72433821A>G
NP_068798.1:p.Ser170Pro
More... 		10/31/2014 missense variant uncertain significance
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:NAP1L2
Accession:NM_021963
Location:EXON
Amino Acid Prediction: S to P (nonsynonymous)
Amino Acid Position: 170
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAESENRKELSESSQEEAGNQIMVEGLGEHLERGEDAAAGLGDDGKCGEEAAAGLGEEGENGEDTAAGSGEDGKKGGDTD
EDSEADRPKGLIGYVLDTDFVESLPVKVKYRVLALKKLQTRAANLESKFLREFHDIERKFAEMYQPLLEKRRQIINAIYE
PTEEECEYKPDSEDCDDEEMCHEEMYGNEEGMVHEYVDEDDGYEDYYYDYAVEEEEEEEEEDDIEATGEENKEEEDPKGI
PDFWLTVLKNVDTLTPLIKKYDEPILKLLTDIKVKLSDPGEPLSFTLEFHFKPNEYFKNELLTKTYVLKSKLAYYDPHPY
RGTAIEYSTGCEIDWNEGKNVTLKTIKKKQKHRIWGTIRTVTEDFPKDSFFNFFSPHGITSNGRDGNDDFLLGHNLRTYI
IPRSVLFFSGDALESQQEGVVREVNDAIYDKIIYDNWMAAIEEVKACCKNLEALVEDIDR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000201416 CLINVAR
dbSNP (RS) rs34995284 CLINVAR
MedGen C1837249 CLINVAR
NCBI Gene NAP1L2 CLINVAR
OMIM 300026 CLINVAR