RGD:11551384 Rat Genome Database

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Variant: RGD:11551384 -  Homo sapiens

RGD ID: 11551384
RS ID: rs34486470
ClinVar ID: CV256887
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBXA2R  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 3,595,006
GRCh38 19 3,595,008
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_201636.3:c.1052T>C
NG_031943.1:g.14438A>G
NM_201636.2:c.1052T>C
LRG_578:g.16826T>C
More... 		07/09/2018 3 prime utr variant|missense variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:TBXA2R
Accession:NM_001060
Location:3UTRS;EXON

Gene Symbol:TBXA2R
Accession:XM_011528214
Location:3UTRS;EXON

Gene Symbol:TBXA2R
Accession:NM_201636
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWPNGSSLGPCFRPTNITLEERRLIASPWFAASFCVVGLASNLLALSVLAGARQGGSHTRSSFLTFLCGLVLTDFLGLLV
TGTIVVSQHAALFEWHAVDPGCRLCRFMGVVMIFFGLSPLLLGAAMASERYLGITRPFSRPAVASQRRAWATVGLVWAAA
LALGLLPLLGVGRYTVQYPGSWCFLTLGAESGDVAFGLLFSMLGGLSVGLSFLLNTVSVATLCHVYHGQEAAQQRPRDSE
VEMMAQLLGIMVVASVCWLPLLVFIAQTVLRNPPAMSPAGQLSRTTEKELLIYLRVATWNQILDPWVYILFRRAVLRRLQ
PRLSTRPRRSLTLWPSLEYSGTISAHCNLRPPGSSDSRASASRAAGITGVSHCARPCMLFDPEFDLLAGVQLLPFEPPTG
KALSRKD*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000252979 CLINVAR
  RCV001668616 CLINVAR
dbSNP (RS) rs34486470 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TBXA2R CLINVAR
OMIM 188070 CLINVAR