RGD:15166908 Rat Genome Database

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Variant: RGD:15166908 -  Homo sapiens

RGD ID: 15166908
RS ID: rs138215873
ClinVar ID: CV711345
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GPIHBP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 144,296,991
GRCh38 8 143,215,116
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.10:g.144296991C>T
NM_001301772.2:c.285C>T
NM_178172.6:c.285C>T
NG_034256.1:g.6924C>T
More...
04/01/2021 synonymous variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GPIHBP1
Accession:NM_178172
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALGAVLLALLLFGRPGRGQTQQEEEEEDEDHGPDDYDEEDEDEVEEEETNRLPGGRSRVLLRCYTCKSLPRDERCNLT
QNCSHGQTCTTLIAHGNTESGLLTTHSTWCTDSCQPITKTVEGTQVTMTCCQSSLCNVPPWQSSRVQDPTGKGAGGPRGS
SETVGAALLLNLLAGLGAMGARRP*

Gene Symbol:GPIHBP1
Accession:NM_001301772
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALGAVLLALLLFGRPGRGQTQQEEEEEDEDHGPDDYDEEDEDEVEEEETNRLPGGRSRVLLRCYTCKSLPRDERCNLT
QNCSHGQTCTTLIAHGNTESGLLTTHSTWCTDSCQPITKTVEGTQ*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000971287 CLINVAR
  RCV002434329 CLINVAR
dbSNP (RS) rs138215873 CLINVAR
MedGen C3661900 CLINVAR
  CN230736 CLINVAR
NCBI Gene GPIHBP1 CLINVAR
OMIM 612757 CLINVAR