RGD:11650849 Rat Genome Database

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Variant: RGD:11650849 -  Homo sapiens

RGD ID: 11650849
RS ID: rs886062999
ClinVar ID: CV314730
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BPNT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 57,870,548
GRCh38 8 56,957,989
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_031926.1:g.40883G>A
NC_000008.11:g.56957989C>T
NC_000008.10:g.57870548C>T
NM_017813.5:c.*5804G>A
More... 		06/14/2016 3 prime utr variant uncertain significance GPAPP DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BPNT2
Accession:NM_017813
Location:3UTRS;EXON

Gene Symbol:BPNT2
Accession:XM_047421917
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000295549 CLINVAR
dbSNP (RS) rs886062999 CLINVAR
MedGen C3279757 CLINVAR
NCBI Gene IMPAD1 CLINVAR
OMIM 614010 CLINVAR
  614078 CLINVAR