RGD:14975689 Rat Genome Database

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Variant: RGD:14975689 -  Homo sapiens

RGD ID: 14975689
RS ID: rs201364793
ClinVar ID: CV615605
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBXA2R  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 3,595,870
GRCh38 19 3,595,872
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_578t1:c.848C>G
NM_201636.3:c.848C>G
NM_001060.5:c.848C>G
NM_001060.6:c.848C>G
More... 		02/01/2019 missense variant uncertain significance
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:TBXA2R
Accession:NM_001060
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWPNGSSLGPCFRPTNITLEERRLIASPWFAASFCVVGLASNLLALSVLAGARQGGSHTRSSFLTFLCGLVLTDFLGLLV
TGTIVVSQHAALFEWHAVDPGCRLCRFMGVVMIFFGLSPLLLGAAMASERYLGITRPFSRPAVASQRRAWATVGLVWAAA
LALGLLPLLGVGRYTVQYPGSWCFLTLGAESGDVAFGLLFSMLGGLSVGLSFLLNTVSVATLCHVYHGQEAAQQRPRDSE
VEMMAQLLGIMVVASVCWLPLLVFIAQTVLRNPPAMSPAGQLCRTTEKELLIYLRVATWNQILDPWVYILFRRAVLRRLQ
PRLSTRPRSLSLQPQLTQRSGLQ*

Gene Symbol:TBXA2R
Accession:NM_201636
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWPNGSSLGPCFRPTNITLEERRLIASPWFAASFCVVGLASNLLALSVLAGARQGGSHTRSSFLTFLCGLVLTDFLGLLV
TGTIVVSQHAALFEWHAVDPGCRLCRFMGVVMIFFGLSPLLLGAAMASERYLGITRPFSRPAVASQRRAWATVGLVWAAA
LALGLLPLLGVGRYTVQYPGSWCFLTLGAESGDVAFGLLFSMLGGLSVGLSFLLNTVSVATLCHVYHGQEAAQQRPRDSE
VEMMAQLLGIMVVASVCWLPLLVFIAQTVLRNPPAMSPAGQLCRTTEKELLIYLRVATWNQILDPWVYILFRRAVLRRLQ
PRLSTRPRRSLTLWPSLEYSGTISAHCNLRLPGSSDSRASASRAAGITGVSHCARPCMLFDPEFDLLAGVQLLPFEPPTG
KALSRKD*

Gene Symbol:TBXA2R
Accession:XM_011528214
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 283
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWPNGSSLGPCFRPTNITLEERRLIASPWFAASFCVVGLASNLLALSVLAGARQGGSHTRSSFLTFLCGLVLTDFLGLLV
TGTIVVSQHAALFEWHAVDPGCRLCRFMGVVMIFFGLSPLLLGAAMASERYLGITRPFSRPAVASQRRAWATVGLVWAAA
LALGLLPLLGVGRYTVQYPGSWCFLTLGAESGDVAFGLLFSMLGGLSVGLSFLLNTVSVATLCHVYHGQEAAQQRPRDSE
VEMMAQLLGIMVVASVCWLPLLVFIAQTVLRNPPAMSPAGQLCRTTEKELLIYLRVATWNQILDPWVYILFRRAVLRRLQ
PRLSTRPRSLSLQPQLTQRSGLQ*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:31064749  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000851900 CLINVAR
dbSNP (RS) rs201364793 CLINVAR
MedGen C0541767 CLINVAR
NCBI Gene TBXA2R CLINVAR
OMIM 188070 CLINVAR