RGD:12913890 Rat Genome Database

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Variant: RGD:12913890 -  Homo sapiens

RGD ID: 12913890
RS ID: rs1131691495
ClinVar ID: CV422401
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 106,890,910
GRCh38 X 107,647,680
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204402.2:c.167G>A
NM_002764.4:c.779G>A
NP_002755.1:p.Arg260His
NC_000023.11:g.107647680G>A
More... 		05/22/2019 missense variant pathogenic|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRPS1
Accession:NM_002764
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIA
SASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENIS
EWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAG
ATRVYAILTHGIFSGPAISHINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL*

Gene Symbol:PRPS1
Accession:NM_001204402
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISHINNACFEAVVVTNTIPQEDKMKHC
SKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000494382 CLINVAR
  RCV001359465 CLINVAR
dbSNP (RS) rs1131691495 CLINVAR
MedGen C3661900 CLINVAR
  CN118851 CLINVAR
NCBI Gene PRPS1 CLINVAR
OMIM 311850 CLINVAR