RGD:405205181 Rat Genome Database

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Variant: RGD:405205181 -  Homo sapiens

RGD ID: 405205181
ClinVar ID: CV3144202
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBXA2R  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 3,595,895
GRCh38 19 3,595,897
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_578t1:c.823G>C
NM_001060.6:c.823G>C
NM_201636.3:c.823G>C
LRG_578:g.15937G>C
More... 		12/23/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TBXA2R
Accession:NM_001060
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWPNGSSLGPCFRPTNITLEERRLIASPWFAASFCVVGLASNLLALSVLAGARQGGSHTRSSFLTFLCGLVLTDFLGLLV
TGTIVVSQHAALFEWHAVDPGCRLCRFMGVVMIFFGLSPLLLGAAMASERYLGITRPFSRPAVASQRRAWATVGLVWAAA
LALGLLPLLGVGRYTVQYPGSWCFLTLGAESGDVAFGLLFSMLGGLSVGLSFLLNTVSVATLCHVYHGQEAAQQRPRDSE
VEMMAQLLGIMVVASVCWLPLLVFIAQTVLRNPPPMSPAGQLSRTTEKELLIYLRVATWNQILDPWVYILFRRAVLRRLQ
PRLSTRPRSLSLQPQLTQRSGLQ*

Gene Symbol:TBXA2R
Accession:NM_201636
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWPNGSSLGPCFRPTNITLEERRLIASPWFAASFCVVGLASNLLALSVLAGARQGGSHTRSSFLTFLCGLVLTDFLGLLV
TGTIVVSQHAALFEWHAVDPGCRLCRFMGVVMIFFGLSPLLLGAAMASERYLGITRPFSRPAVASQRRAWATVGLVWAAA
LALGLLPLLGVGRYTVQYPGSWCFLTLGAESGDVAFGLLFSMLGGLSVGLSFLLNTVSVATLCHVYHGQEAAQQRPRDSE
VEMMAQLLGIMVVASVCWLPLLVFIAQTVLRNPPPMSPAGQLSRTTEKELLIYLRVATWNQILDPWVYILFRRAVLRRLQ
PRLSTRPRRSLTLWPSLEYSGTISAHCNLRLPGSSDSRASASRAAGITGVSHCARPCMLFDPEFDLLAGVQLLPFEPPTG
KALSRKD*

Gene Symbol:TBXA2R
Accession:XM_011528214
Location:EXON
Amino Acid Prediction: A to P (nonsynonymous)
Amino Acid Position: 275
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWPNGSSLGPCFRPTNITLEERRLIASPWFAASFCVVGLASNLLALSVLAGARQGGSHTRSSFLTFLCGLVLTDFLGLLV
TGTIVVSQHAALFEWHAVDPGCRLCRFMGVVMIFFGLSPLLLGAAMASERYLGITRPFSRPAVASQRRAWATVGLVWAAA
LALGLLPLLGVGRYTVQYPGSWCFLTLGAESGDVAFGLLFSMLGGLSVGLSFLLNTVSVATLCHVYHGQEAAQQRPRDSE
VEMMAQLLGIMVVASVCWLPLLVFIAQTVLRNPPPMSPAGQLSRTTEKELLIYLRVATWNQILDPWVYILFRRAVLRRLQ
PRLSTRPRSLSLQPQLTQRSGLQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003844992 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TBXA2R CLINVAR
OMIM 188070 CLINVAR