RGD:15148135 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:15148135 -  Homo sapiens

RGD ID: 15148135
RS ID: rs754068855
ClinVar ID: CV689321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 106,893,175
GRCh38 X 107,649,945
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.258T>C
NM_002764.4:c.870T>C
NG_008407.1:g.26522T>C
NP_002755.1:p.Ile290=
More...
03/29/2018 synonymous variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PRPS1
Accession:NM_002764
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMELLIMINACKIA
SASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPAVLKWIRENIS
EWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADTCGTICHAADKLLSAG
ATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDKMKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL*

Gene Symbol:PRPS1
Accession:NM_001204402
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 86
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 RCV000866607 CLINVAR
dbSNP (RS) rs754068855 CLINVAR
MedGen CN118851 CLINVAR
NCBI Gene PRPS1 CLINVAR
OMIM 311850 CLINVAR