RGD:26902260 Rat Genome Database

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Variant: RGD:26902260 -  Homo sapiens

RGD ID: 26902260
RS ID: rs150490302
ClinVar ID: CV840225
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GNB3  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 6,952,799
GRCh38 12 6,843,635
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001297571.2:c.434A>C
NM_002075.4:c.434A>C
NG_009100.2:g.8425A>C
NC_000012.12:g.6843635A>C
More... 		01/08/2020 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GNB3
Accession:XM_047428702
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYAMHWATDSKLLVSASQDGKLI
VWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNMCSIYNLKSREGNVKVSRELSAHTGSLSCCRFLDDNNIVTS
SGDTTCALWDIETGQQKTVFVGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEA
ICTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSMKSERVGKGQPWLLLPQLEGP
SPALPPHSVPPISSHFGLSYCCPLSLGDSTPGIQYPLVPN*

Gene Symbol:GNB3
Accession:NM_002075
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYAMHWATDSKLLVSASQDGKLI
VWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNMCSIYNLKSREGNVKVSRELSAHTGSLSCCRFLDDNNIVTS
SGDTTCALWDIETGQQKTVFVGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEA
ICTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSMKSERVGILSGHDNRVSCLGV
TADGMAVATGSWDSFLKIWN*

Gene Symbol:GNB3
Accession:NM_001297571
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYAMHWATDSKLLVSASQDGKLI
VWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNMCSIYNLKSREGNVKVSRELSAHTGSLSCCRFLDDNNIVTS
SGDTTALWDIETGQQKTVFVGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEAI
CTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSMKSERVGILSGHDNRVSCLGVT
ADGMAVATGSWDSFLKIWN*

Gene Symbol:GNB3
Accession:XM_011520953
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYAMHWATDSKLLVSASQDGKLI
VWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNMCSIYNLKSREGNVKVSRELSAHTGSLSCCRFLDDNNIVTS
SGDTTCALWDIETGQQKTVFVGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEA
ICTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSMKSERVGKGQPWLLLPQLEGP
SPALPPHSVPPISSHFGLSYCCPLSLGDSTPGIQYPLVPN*

Gene Symbol:GNB3
Accession:XM_047428703
Location:EXON
Amino Acid Prediction: Y to S (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYAMHWATDSKLLVSASQDGKLI
VWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNMCSIYNLKSREGNVKVSRELSAHTGSLSCCRFLDDNNIVTS
SGDTTCALWDIETGQQKTVFVGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEA
ICTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSMKSERVGILSGHDNRVSCLGV
TADGMAVATGSWDSFLKIWN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001069227 CLINVAR
  RCV002554569 CLINVAR
dbSNP (RS) rs150490302 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene GNB3 CLINVAR
OMIM 139130 CLINVAR