RGD:15160806 Rat Genome Database

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Variant: RGD:15160806 -  Homo sapiens

RGD ID: 15160806
RS ID: rs764436614
ClinVar ID: CV728039
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIK3R2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 18,273,891
GRCh38 19 18,163,081
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005027.4:c.1224G>A
NG_033010.1:g.14904G>A
NG_033010.2:g.14904G>A
NC_000019.10:g.18163081G>A
More... 		09/13/2017 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PIK3R2
Accession:NM_005027
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 408
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGPEGFQYRALYPFRRERPEDLELLPGDVLVVSRAALQALGVAEGGERCPQSVGWMPGLNERTRQRGDFPGTYVEFLGP
VALARPGPRPRGPRPLPARPRDGAPEPGLTLPDLPEQFSPPDVAPPLLVKLVEAIERTGLDSESHYRPELPAPRTDWSLS
DVDQWDTAALADGIKSFLLALPAPLVTPEASAEARRALREAAGPVGPALEPPTLPLHRALTLRFLLQHLGRVASRAPALG
PAVRALGATFGPLLLRAPPPPSSPPPGGAPDGSEPSPDFPALLVEKLLQEHLEEQEVAPPALPPKPPKAKPASTVLANGG
SPPSLQDAEWYWGDISREEVNEKLRDTPDGTFLVRDASSKIQGEYTLTLRKGGNNKLIKVFHRDGHYGFSEPLTFCSVVD
LINHYRHESLAQYNAKLDTRLLYPVSKYQQDQIVKEDSVEAVGAQLKVYHQQYQDKSREYDQLYEEYTRTSQELQMKRTA
IEAFNETIKIFEEQGQTQEKCSKEYLERFRREGNEKEMQRILLNSERLKSRIAEIHESRTKLEQQLRAQASDNREIDKRM
NSLKPDLMQLRKIRDQYLVWLTQKGARQKKINEWLGIKNETEDQYALMEDEDDLPHHEERTWYVGKINRTQAEEMLSGKR
DGTFLIRESSQRGCYACSVVVDGDTKHCVIYRTATGFGFAEPYNLYGSLKELVLHYQHASLVQHNDALTVTLAHPVRAPG
PGPPPAAR*

Gene Symbol:PIK3R2
Accession:NR_162071
Location:EXON;NON-CODING

Gene Symbol:PIK3R2
Accession:NR_073517
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000881455 CLINVAR
dbSNP (RS) rs764436614 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PIK3R2 CLINVAR
OMIM 603157 CLINVAR