RGD:11611331 Rat Genome Database

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Variant: RGD:11611331 -  Homo sapiens

RGD ID: 11611331
RS ID: rs148820865
ClinVar ID: CV305614
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BPNT2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 57,905,809
GRCh38 8 56,993,250
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.5622G>A
NC_000008.11:g.56993250C>T
NC_000008.10:g.57905809C>T
NP_060283.3:p.Leu112=
More... 		11/26/2020 synonymous variant likely benign|uncertain significance GPAPP DEFICIENCY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BPNT2
Accession:NM_017813
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPMGIRLSPLGVAVFCLLGLGVLYHLYSGFLAGRFSLFGLGGEPGGGAAGPAAAADGGTVDLREMLAVSVLAAVRGGDE
VRRVRESNVLHEKSKGKTREGAEDKMTSGDVLSNRKMFYLLKTAFPSVQINTEEHVDAADQEVILWDHKIPEDILKEVTT
PKEVPAESVTVWIDPLDATQEYTEDLRKYVTTMVCVAVNGKPMLGVIHKPFSEYTAWAMVDGGSNVKARSSYNEKTPRIV
VSRSHSGMVKQVALQTFGNQTTIIPAGGAGYKVLALLDVPDKSQEKADLYIHVTYIKKWDICAGNAILKALGGHMTTLSG
EEISYTGSDGIEGGLLASIRMNHQALVRKLPDLEKTGHK*

Gene Symbol:BPNT2
Accession:XM_047421917
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPMGIRLSPLGVAVFCLLGLGVLYHLYSGFLAGRFSLFGLGGEPGGGAAGPAAAADGGTVDLREMLAVSVLAAVRGGDE
VRRVRESNVLHEKSKGKTREGAEDKMTSGDVLSNRKMFYLLKTAFPSVQINTEEHVDAADQEVILWDHKIPEDILKEVTT
PKEVPAESVTVWIDPLDATQEYTEDLRKYVTTMVCVAVNGKPMLGVIHKPFSEYTARNKLVMQLVSLLAMVDYILPCSE*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000393313 CLINVAR
  RCV001451373 CLINVAR
dbSNP (RS) rs148820865 CLINVAR
MedGen C3279757 CLINVAR
  C3661900 CLINVAR
NCBI Gene IMPAD1 CLINVAR
OMIM 614010 CLINVAR
  614078 CLINVAR