RGD:126744005 Rat Genome Database

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Variant: RGD:126744005 -  Homo sapiens

RGD ID: 126744005
RS ID: rs369106726
ClinVar ID: CV1018886
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130068621  RNF113A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 119,005,501
GRCh38 X 119,871,538
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006978.3:c.76G>A
NG_009381.1:g.4768C>T
NG_021227.1:g.5291G>A
NC_000023.11:g.119871538C>T
More... 		02/18/2020 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RNF113A
Accession:NM_006978
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEQLSPGKAVDQVCTFLFKKPGRKRAAGRRKRPACDPEPGESGSSSDEGCTVVRPEKKRVTHNPMIQKTRDSGKQKAAY
GDLSSEEEEENEPESLGVVYKSTRSAKPVGPEDMGATAVYELDTEKERDAQAIFERSQKIQEELRGKEDDKIYRGINNYQ
KYMKPKDTSMGNASSGMVRKGPIRAPEHLRATVRWDYQPDICKDYKETGFCGFGDSCKFLHDRSDYKHGWQIERELDEGR
YGVYEDENYEVGSDDEEIPFKCFICRQSFQNPVVTKCRHYFCESCALQHFRTTPRCYVCDQQTNGVFNPAKELIAKLEKH
RATGEGGASDLPEDPDEDAIPIT*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001330342 CLINVAR
dbSNP (RS) rs369106726 CLINVAR
MedGen C4225420 CLINVAR
NCBI Gene LOC130068621 CLINVAR
  RNF113A CLINVAR
OMIM 300951 CLINVAR
  300953 CLINVAR