RGD:13500067 Rat Genome Database

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Variant: RGD:13500067 -  Homo sapiens

RGD ID: 13500067
RS ID: rs201955244
ClinVar ID: CV470696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIK1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 44,836,770
GRCh38 21 43,416,890
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_052009.1:g.15243G>A
NC_000021.9:g.43416890C>T
NC_000021.8:g.44836770C>T
NM_173354.3:c.2204G>A
More... 		12/28/2018 missense variant benign|likely benign Epileptic encephalopathy, early infantile, 30
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SIK1
Accession:XM_011529474
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 686
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVIMSEFSADPAGQGQGQQKPLRVGFYDIERTLGKGNFAVVKLARHRVTKTQVAIKIIDKTRLDSSNLEKIYREVQLMKL
LNHPHIIKLYQVMETKDMLYIVTEFAKNGEMFDYLTSNGHLSENEARKKFWQILSAVEYCHDHHIVHRDLKTENLLLDGN
MDIKLADFGFGNFYKSGEPLSTWCGSPPYAAPEVFEGKEYEGPQLDIWSLGVVLYVLVCGSLPFDGPNLPTLRQRVLEGR
FRIPFFMSQDCESLIRRMLVVDPARRITIAQIRQHRWMRAEPCLPGPACPAFSAHSYTSNLGDYDEQALGIMQTLGVDRQ
RTVEVPQEGLSTDPFRPALLCPQPQTLVQSVLQAEMDCELQSSLQWPLFFPVDASCSGVFRPRPVSPSSLLDTAISEEAR
QGPGLEEEQDTQESLPSSTGRRHTLAEVSTRLSPLTAPCIVVSPSTTASPAEGTSSDSCLTFSASKSPAGLSGTPATQGL
LGACSPVRLASPFLGSQSATPVLQAQGGLGGAVLLPVSFQEGRRASDTSLTQGLKAFRQQLRKTTRTKGFLGLNKIKGLA
RQVCQAPASRASRGGLSPFHAPAQSPGLHGGAAGSREGWSLLEEVLEQQRLLQLQHHPAAAPGCSQAPQPAPAPFVIAPC
DGPGAAPLPSTLLTSGLPLLPPPLLQTGASPVASAAQLLDTHLHIDTGPTALPAVPPPRLARLAPGCEPLGLLQGDCEME
DLMPCSLGTFVLVQ*

Gene Symbol:SIK1
Accession:NM_173354
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 735
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVIMSEFSADPAGQGQGQQKPLRVGFYDIERTLGKGNFAVVKLARHRVTKTQVAIKIIDKTRLDSSNLEKIYREVQLMKL
LNHPHIIKLYQVMETKDMLYIVTEFAKNGEMFDYLTSNGHLSENEARKKFWQILSAVEYCHDHHIVHRDLKTENLLLDGN
MDIKLADFGFGNFYKSGEPLSTWCGSPPYAAPEVFEGKEYEGPQLDIWSLGVVLYVLVCGSLPFDGPNLPTLRQRVLEGR
FRIPFFMSQDCESLIRRMLVVDPARRITIAQIRQHRWMRAEPCLPGPACPAFSAHSYTSNLGDYDEQALGIMQTLGVDRQ
RTVESLQNSSYNHFAAIYYLLLERLKEYRNAQCARPGPARQPRPRSSDLSGLEVPQEGLSTDPFRPALLCPQPQTLVQSV
LQAEMDCELQSSLQWPLFFPVDASCSGVFRPRPVSPSSLLDTAISEEARQGPGLEEEQDTQESLPSSTGRRHTLAEVSTR
LSPLTAPCIVVSPSTTASPAEGTSSDSCLTFSASKSPAGLSGTPATQGLLGACSPVRLASPFLGSQSATPVLQAQGGLGG
AVLLPVSFQEGRRASDTSLTQGLKAFRQQLRKTTRTKGFLGLNKIKGLARQVCQAPASRASRGGLSPFHAPAQSPGLHGG
AAGSREGWSLLEEVLEQQRLLQLQHHPAAAPGCSQAPQPAPAPFVIAPCDGPGAAPLPSTLLTSGLPLLPPPLLQTGASP
VASAAQLLDTHLHIDTGPTALPAVPPPRLARLAPGCEPLGLLQGDCEMEDLMPCSLGTFVLVQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000535373 CLINVAR
  RCV002316588 CLINVAR
dbSNP (RS) rs201955244 CLINVAR
MedGen C0950123 CLINVAR
  C4225360 CLINVAR
NCBI Gene SIK1 CLINVAR
OMIM 605705 CLINVAR
  616341 CLINVAR