rs369958038 Rat Genome Database

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Variant: rs369958038 -  Homo sapiens

RGD ID: 9480238
RS ID: rs369958038
ClinVar ID: CV152753
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCNA  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 5,096,118
GRCh38 20 5,115,472
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_002592.2:c.683G>T
NC_000020.11:g.5115472C>A
NC_000020.10:g.5096118C>A
NP_002583.1:p.Ser228Ile
More... 		04/03/2018 missense variant pathogenic|uncertain significance infancy|neonatal <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PCNA
Accession:NM_002592
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFEARLVQGSILKKVLEALKDLINEACWDISSSGVNLQSMDSSHVSLVQLTLRSEGFDTYRCDRNLAMGVNLTSMSKILK
CAGNEDIITLRAEDNADTLALVFEAPNQEKVSDYEMKLMDLDVEQLGIPEQEYSCVVKMPSGEFARICRDLSHIGDAVVI
SCAKDGVKFSASGELGNGNIKLSQTSNVDKEEEAVTIEMNEPVQLTFALRYLNFFTKATPLSSTVTLIMSADVPLVVEYK
IADMGHLKYYLAPKIEDEEGS*

Gene Symbol:PCNA
Accession:NM_182649
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 228
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFEARLVQGSILKKVLEALKDLINEACWDISSSGVNLQSMDSSHVSLVQLTLRSEGFDTYRCDRNLAMGVNLTSMSKILK
CAGNEDIITLRAEDNADTLALVFEAPNQEKVSDYEMKLMDLDVEQLGIPEQEYSCVVKMPSGEFARICRDLSHIGDAVVI
SCAKDGVKFSASGELGNGNIKLSQTSNVDKEEEAVTIEMNEPVQLTFALRYLNFFTKATPLSSTVTLIMSADVPLVVEYK
IADMGHLKYYLAPKIEDEEGS*
Variant Samples
Additional References at PubMed
PMID:24911150   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000132551 CLINVAR
dbSNP (RS) rs369958038 CLINVAR
MedGen C4014676 CLINVAR
NCBI Gene PCNA CLINVAR
OMIM 176740 CLINVAR
  615919 CLINVAR
OMIM Allele 176740.0001 CLINVAR