RGD:15120039 Rat Genome Database

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Variant: RGD:15120039 -  Homo sapiens

RGD ID: 15120039
RS ID: rs1585554314
ClinVar ID: CV783139
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BPNT2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 57,876,592
GRCh38 8 56,964,033
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017813.5:c.840T>C
NG_031926.1:g.34839T>C
NC_000008.11:g.56964033A>G
NC_000008.10:g.57876592A>G
More... 		12/04/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:BPNT2
Accession:NM_017813
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPMGIRLSPLGVAVFCLLGLGVLYHLYSGFLAGRFSLFGLGGEPGGGAAGPAAAADGGTVDLREMLAVSVLAAVRGGDE
VRRVRESNVLHEKSKGKTREGAEDKMTSGDVLSNRKMFYLLKTAFPSVQINTEEHVDAADQEVILWDHKIPEDILKEVTT
PKEVPAESVTVWIDPLDATQEYTEDLRKYVTTMVCVAVNGKPMLGVIHKPFSEYTAWAMVDGGSNVKARSSYNEKTPRIV
VSRSHSGMVKQVALQTFGNQTTIIPAGGAGYKVLALLDVPDKSQEKADLYIHVTYIKKWDICAGNAILKALGGHMTTLSG
EEISYTGSDGIEGGLLASIRMNHQALVRKLPDLEKTGHK*

Gene Symbol:BPNT2
Accession:XM_047421917
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000979220 CLINVAR
dbSNP (RS) rs1585554314 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene IMPAD1 CLINVAR
OMIM 614010 CLINVAR