RGD:15129992 Rat Genome Database

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Variant: RGD:15129992 -  Homo sapiens

RGD ID: 15129992
RS ID: rs759163993
ClinVar ID: CV694767
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 106,888,536
GRCh38 X 107,645,306
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.48T>C
NM_002764.4:c.660T>C
NG_008407.1:g.21883T>C
NC_000023.11:g.107645306T>C
More... 		01/15/2019 synonymous variant benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRPS1
Accession:NM_002764
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 220
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIA
SASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENIS
EWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAG
ATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL*

Gene Symbol:PRPS1
Accession:NM_001204402
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 16
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHC
SKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000875739 CLINVAR
dbSNP (RS) rs759163993 CLINVAR
MedGen CN118851 CLINVAR
NCBI Gene PRPS1 CLINVAR
OMIM 311850 CLINVAR