RGD:9481093 Rat Genome Database

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Variant: RGD:9481093 -  Homo sapiens

RGD ID: 9481093
RS ID: rs587777636
ClinVar ID: CV153743
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPIHBP1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 144,295,810
GRCh38 8 143,213,935
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.143213935G>C
NC_000008.10:g.144295810G>C
NG_034256.1:g.5743G>C
NP_001288701.1:p.Gly56Arg
More... 		08/20/2014 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GPIHBP1
Accession:NM_001301772
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALGAVLLALLLFGRPGRGQTQQEEEEEDEDHGPDDYDEEDEDEVEEEETNRLPRGRSRVLLRCYTCKSLPRDERCNLT
QNCSHGQTCTTLIAHGNTESGLLTTHSTWCTDSCQPITKTVEGTQ*

Gene Symbol:GPIHBP1
Accession:NM_178172
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALGAVLLALLLFGRPGRGQTQQEEEEEDEDHGPDDYDEEDEDEVEEEETNRLPRGRSRVLLRCYTCKSLPRDERCNLT
QNCSHGQTCTTLIAHGNTESGLLTTHSTWCTDSCQPITKTVEGTQVTMTCCQSSLCNVPPWQSSRVQDPTGKGAGGPRGS
SETVGAALLLNLLAGLGAMGARRP*
Variant Samples
Additional References at PubMed
PMID:17997385  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000133521 CLINVAR
dbSNP (RS) rs587777636 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GPIHBP1 CLINVAR
OMIM 612757 CLINVAR
OMIM Allele 612757.0001 CLINVAR