RGD:14742684 Rat Genome Database

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Variant: RGD:14742684 -  Homo sapiens

RGD ID: 14742684
RS ID: rs769486587
ClinVar ID: CV647704
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RNASEH2A  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 12,920,912
GRCh38 19 12,810,098
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006397.3:c.439G>C
LRG_278t1:c.439G>C
LRG_278:g.8485G>C
NG_012662.1:g.8485G>C
More... 		12/15/2018 missense variant uncertain significance
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 Q (nonsynonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLSELERDNTGRCRLSSPVPAVCRKEPCVLGVDEAGRGPVLGPMVYAICYCPLPRLADLEALKVADSKTLLESERERLF
AKMEDTDFVGWALDVLSPNLISTSMLGRVKYNLNSLSHDTATGLIQYALDQGVNVTQVFVDTVGMPQTYQARLQQSFPGI
EVTVKAKADALYPVVSAASICAKVARDQAVKKWQFVEKLQDLDTDYGSGYPNDPKTKAWLKEHVEPVFGFPQFVRFSWRT
AQTILEKEAEDVIWEDSASENQEGLRKITSYFLNEGSQARPRSSHRYFLERGLESATSL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000822955 CLINVAR
dbSNP (RS) rs769486587 CLINVAR
MedGen C1835912 CLINVAR
NCBI Gene RNASEH2A CLINVAR
OMIM 606034 CLINVAR
  610333 CLINVAR