RGD:26897106 Rat Genome Database

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Variant: RGD:26897106 -  Homo sapiens

RGD ID: 26897106
RS ID: rs764614950
ClinVar ID: CV847306
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNASEH2A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 12,924,260
GRCh38 19 12,813,446
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_278t1:c.880G>A
NM_006397.3:c.880G>A
LRG_278:g.11833G>A
NG_012662.1:g.11833G>A
More... 		12/04/2019 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RNASEH2A
Accession:NM_006397
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSELERDNTGRCRLSSPVPAVCRKEPCVLGVDEAGRGPVLGPMVYAICYCPLPRLADLEALKVADSKTLLESERERLF
AKMEDTDFVGWALDVLSPNLISTSMLGRVKYNLNSLSHDTATGLIQYALDQGVNVTQVFVDTVGMPETYQARLQQSFPGI
EVTVKAKADALYPVVSAASICAKVARDQAVKKWQFVEKLQDLDTDYGSGYPNDPKTKAWLKEHVEPVFGFPQFVRFSWRT
AQTILEKEAEDVIWEDSASENQEGLRKITSYFLNEGSQARPRSSHRYFLERGLKSATSL*
Variant Samples
Additional References at PubMed
PMID:25500883   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001070146 CLINVAR
  RCV001760051 CLINVAR
dbSNP (RS) rs764614950 CLINVAR
MedGen C1835912 CLINVAR
  CN517202 CLINVAR
NCBI Gene RNASEH2A CLINVAR
OMIM 606034 CLINVAR
  610333 CLINVAR