RGD:13211974 Rat Genome Database

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Variant: RGD:13211974 -  Homo sapiens

RGD ID: 13211974
RS ID: rs1555815238
ClinVar ID: CV426295
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PIK3R2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 18,279,675
GRCh38 19 18,168,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033010.1:g.20688A>G
NC_000019.10:g.18168865A>G
NC_000019.9:g.18279675A>G
NG_033010.2:g.20688A>G
More... 		10/08/2015 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:PIK3R2
Accession:NM_005027
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 650
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGPEGFQYRALYPFRRERPEDLELLPGDVLVVSRAALQALGVAEGGERCPQSVGWMPGLNERTRQRGDFPGTYVEFLGP
VALARPGPRPRGPRPLPARPRDGAPEPGLTLPDLPEQFSPPDVAPPLLVKLVEAIERTGLDSESHYRPELPAPRTDWSLS
DVDQWDTAALADGIKSFLLALPAPLVTPEASAEARRALREAAGPVGPALEPPTLPLHRALTLRFLLQHLGRVASRAPALG
PAVRALGATFGPLLLRAPPPPSSPPPGGAPDGSEPSPDFPALLVEKLLQEHLEEQEVAPPALPPKPPKAKPASTVLANGG
SPPSLQDAEWYWGDISREEVNEKLRDTPDGTFLVRDASSKIQGEYTLTLRKGGNNKLIKVFHRDGHYGFSEPLTFCSVVD
LINHYRHESLAQYNAKLDTRLLYPVSKYQQDQIVKEDSVEAVGAQLKVYHQQYQDKSREYDQLYEEYTRTSQELQMKRTA
IEAFNETIKIFEEQGQTQEKCSKEYLERFRREGNEKEMQRILLNSERLKSRIAEIHESRTKLEQQLRAQASDNREIDKRM
NSLKPDLMQLRKIRDQYLVWLTQKGARQKKINEWLGIKNETEDQYALMEDEDDLPHHEERTWYVGKINRTQAEEMLSGKR
DGTFLIRESGQRGCYACSVVVDGDTKHCVIYRTATGFGFAEPYNLYGSLKELVLHYQHASLVQHNDALTVTLAHPVRAPG
PGPPPAAR*

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000498169 CLINVAR
dbSNP (RS) rs1555815238 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene PIK3R2 CLINVAR
OMIM 603157 CLINVAR