RGD:126745609 Rat Genome Database

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Variant: RGD:126745609 -  Homo sapiens

RGD ID: 126745609
RS ID: rs772032719
ClinVar ID: CV1017086
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OTUD6B  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 92,092,899
GRCh38 8 91,080,671
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286745.3:c.328G>T
NM_016023.5:c.631G>T
NC_000008.11:g.91080671G>T
NC_000008.10:g.92092899G>T
More... 		12/24/2019 nonsense pathogenic none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OTUD6B
Accession:NM_001286745
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MISKEKKAALEKEREERIAEAEIENLTGARHMESEKLAQILAARQLEIKQIPSDGHCMYKAIEDQLKEKDCALTVVALRS
QTAEYMQSHVEDFLPFLTNPNTGDMYTPE*FQKYCEDIVNTAAWGGQLELRALSHILQTPIEIIQADSPPIIVGEEYSKK
PLILVYMRHAYGLGEHYNSVTRLVNIVTENCS*

Gene Symbol:OTUD6B
Accession:NM_001416022
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 184
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAVLTEELDEEEQLLRRHRKEKKELQAKIQGMKNAVPKNDKKRRKQLTEDVAKLEKEMEQKHREELEQLKLTTKENKEK
KAALEKEREERIAEAEIENLTGARHMESEKLAQILAARQLEIKQIPSDGHCMYKAIEDQLKEKDCALTVVALRSQTAEYM
QSHVEDFLPFLTNPNTGDMYTPE*FQKYCEDIVNTAAWGGQLELRALSHILQTPIEIIQADSPPIIVGEEYSKKPLILVY
MRHAYGLGEHYNSVTRLVNIVTENCS*

Gene Symbol:OTUD6B
Accession:XM_011517129
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MISKEKKAALEKEREERIAEAEIENLTGARHMESEKLAQILAARQLEIKQIPSDGHCMYKAIEDQLKEKDCALTVVALRS
QTAEYMQSHVEDFLPFLTNPNTGDMYTPE*FQKYCEDIVNTAAWGGQLELRALSHILQTPIEIIQADSPPIIVGEEYSKK
PLILVYMRHAYGLGEHYNSVTRLVNIVTENCS*

Gene Symbol:OTUD6B
Accession:NM_016023
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEAVLTEELDEEEQLLRRHRKEKKELQAKIQGMKNAVPKNDKKRRKQLTEDVAKLEKEMEQKHREELEQLKLTTKENKID
SVAVNISNLVLENQPPRISKAQKRREKKAALEKEREERIAEAEIENLTGARHMESEKLAQILAARQLEIKQIPSDGHCMY
KAIEDQLKEKDCALTVVALRSQTAEYMQSHVEDFLPFLTNPNTGDMYTPE*FQKYCEDIVNTAAWGGQLELRALSHILQT
PIEIIQADSPPIIVGEEYSKKPLILVYMRHAYGLGEHYNSVTRLVNIVTENCS*

Gene Symbol:OTUD6B
Accession:XM_047421864
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28343629   PMID:28492532   PMID:32181568  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001330700 CLINVAR
  RCV001871814 CLINVAR
dbSNP (RS) rs772032719 CLINVAR
MedGen C3661900 CLINVAR
  C4479520 CLINVAR
NCBI Gene OTUD6B CLINVAR
OMIM 612021 CLINVAR
  617452 CLINVAR