RGD:126759723 Rat Genome Database

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Variant: RGD:126759723 -  Homo sapiens

RGD ID: 126759723
RS ID: rs200137375
ClinVar ID: CV1014046
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GINS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 25,397,759
GRCh38 20 25,417,123
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021067.5:c.160G>A
NC_000020.11:g.25417123G>A
NC_000020.10:g.25397759G>A
NR_134574.2:n.308G>A
More... 		10/07/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GINS1
Accession:NM_021067
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCEKAMELIRELHRAPEGQLPAFNEDGLRQVLEEMKALYEQNQSDVNEAKSGRRSDLIPTIKFRHCSLLRNRRCTVAYL
YDRLLRIRALRWEYGSVLPNALRFHMAAEEMEWFNNYKRSLATYMRSLGGDEGLDITQDMKPPKSLYIEVRCLKDYGEFE
VDDGTSVLLKKNSQHFLPRWKCEQLIRQGVLEHILS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCEKAMELIRELHRAPEGQLPAFNEDGLRQVLEEMKALYEQNQSDVNEAKSGRRSDLIPTIKFRHCSLLRNRRCTVAYL
YDRLLRIRALRWEYGSVLPNALRFHMAAEEVRCLKDYGEFEVDDGTSVLLKKNSQHFLPRWKCEQLIRQGVLEHILS*

Gene Symbol:GINS1
Accession:XM_017028162
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKALYEQNQSDVNEAKSGRRSDLIPTIKFRHCSLLRNRRCTVAYLYDRLLRIRALRWEYGSVLPNALRFHMAAEEMEWFN
NYKRSLATYMRSLGGDEGLDITQDMKPPKSLYIEVRCLKDYGEFEVDDGTSVLLKKNSQHFLPRWKCEQLIRQGVLEHIL
S*

Gene Symbol:GINS1
Accession:XM_047440625
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCEKAMELIRELHRAPEGQLPAFNEDGLRQVLEEMKALYEQNQSDVNEAKSGRRSDLIPTIKFRHCSLLRNRRCTVAYL
YDRLLRIRALRWEYGSVLPNALRFHMAAEEMESRSVAQAGVQWCILCSLQLPPPGFKQFSCLSLPSSCDYSSDVLETLKD
EKRLIQINSVVDHRHLCLSNCIVATASAILDQ*

Gene Symbol:GINS1
Accession:NM_001410830
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCEKAMELIRELHRAPEGQLPAFNEDGLRQVLEEMKALYEQNQSDVNEAKSGRRSDLIPTIKFRHCSLLRNRRCTVAYL
YDRLLRIRALRWEYGSVLPNALRFHMAAEEVRCLKDYGEFEVDDGTSVLLKKNSQHFLPRWKCEQLIRQGVLEHILS*

Gene Symbol:GINS1
Accession:NR_134574
Location:EXON;NON-CODING

Gene Symbol:GINS1
Accession:XR_007067484
Location:EXON;NON-CODING

Gene Symbol:GINS1
Accession:XR_244227
Location:EXON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:GINS1
Accession:NM_001410831
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001318137 CLINVAR
dbSNP (RS) rs200137375 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GINS1 CLINVAR
OMIM 610608 CLINVAR