RGD:15191744 Rat Genome Database

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Variant: RGD:15191744 -  Homo sapiens

RGD ID: 15191744
RS ID: rs147480203
ClinVar ID: CV702490
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDCA3  GNB3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 6,954,779
GRCh38 12 6,845,615
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.726G>A
NM_002075.4:c.729G>A
NG_009100.2:g.10405G>A
NC_000012.12:g.6845615G>A
More... 		11/03/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CDCA3
Accession:NM_001297603
Location:3UTRS;EXON

Gene Symbol:GNB3
Accession:XM_047428702
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYAMHWATDSKLLVSASQDGKLI
VWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNMCSIYNLKSREGNVKVSRELSAHTGYLSCCRFLDDNNIVTS
SGDTTCALWDIETGQQKTVFVGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEA
ICTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSMKSERVGKGQPWLLLPQLEGP
SPALPPHSVPPISSHFGLSYCCPLSLGDSTPGIQYPLVPN*

Gene Symbol:GNB3
Accession:XM_011520953
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYAMHWATDSKLLVSASQDGKLI
VWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNMCSIYNLKSREGNVKVSRELSAHTGYLSCCRFLDDNNIVTS
SGDTTCALWDIETGQQKTVFVGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEA
ICTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSMKSERVGKGQPWLLLPQLEGP
SPALPPHSVPPISSHFGLSYCCPLSLGDSTPGIQYPLVPN*

Gene Symbol:GNB3
Accession:NM_002075
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYAMHWATDSKLLVSASQDGKLI
VWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNMCSIYNLKSREGNVKVSRELSAHTGYLSCCRFLDDNNIVTS
SGDTTCALWDIETGQQKTVFVGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEA
ICTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSMKSERVGILSGHDNRVSCLGV
TADGMAVATGSWDSFLKIWN*

Gene Symbol:GNB3
Accession:XM_047428703
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYAMHWATDSKLLVSASQDGKLI
VWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNMCSIYNLKSREGNVKVSRELSAHTGYLSCCRFLDDNNIVTS
SGDTTCALWDIETGQQKTVFVGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEA
ICTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSMKSERVGILSGHDNRVSCLGV
TADGMAVATGSWDSFLKIWN*

Gene Symbol:GNB3
Accession:NM_001297571
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 242
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQMRTRRTLRGHLAKIYAMHWATDSKLLVSASQDGKLI
VWDSYTTNKVHAIPLRSSWVMTCAYAPSGNFVACGGLDNMCSIYNLKSREGNVKVSRELSAHTGYLSCCRFLDDNNIVTS
SGDTTALWDIETGQQKTVFVGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTCRQTFTGHESDINAICFFPNGEAI
CTGSDDASCRLFDLRADQELICFSHESIICGITSVAFSLSGRLLFAGYDDFNCNVWDSMKSERVGILSGHDNRVSCLGVT
ADGMAVATGSWDSFLKIWN*

Gene Symbol:CDCA3
Accession:NM_031299
Location:INTRON

Gene Symbol:CDCA3
Accession:NM_001297604
Location:INTRON

Gene Symbol:CDCA3
Accession:NM_001331019
Location:INTRON

Gene Symbol:CDCA3
Accession:XM_047429628
Location:INTRON

Gene Symbol:CDCA3
Accession:NM_001297602
Location:INTRON

Gene Symbol:CDCA3
Accession:NR_123727
Location:INTRON;NON-CODING

Gene Symbol:CDCA3
Accession:NR_138531
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000954865 CLINVAR
dbSNP (RS) rs147480203 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CDCA3 CLINVAR
  GNB3 CLINVAR
OMIM 139130 CLINVAR
  607749 CLINVAR