RGD:10049720 Rat Genome Database

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Variant: RGD:10049720 -  Homo sapiens

RGD ID: 10049720
RS ID: rs201164597
ClinVar ID: CV190848
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BCKDK  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 31,122,679
GRCh38 16 31,111,358
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033011.1:g.8065A>G
NC_000016.10:g.31111358A>G
NC_000016.9:g.31122679A>G
NP_005872.2:p.Ile302Val
More... 		10/31/2018 intron variant|missense variant uncertain significance BCKDK DEFICIENCY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BCKDK
Accession:NM_005881
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGR
SQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLD
DHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARR
LCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITVANNDVDLIIRISDRGGGI
AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHGFGFGLPTSRAYAEYLGGSLQLQSLQGIGTDVYLRL
RHIDGREESFRI*

Gene Symbol:BCKDK
Accession:XM_017022859
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGR
SQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLD
DHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARR
LCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITVANNDVDLIIRISDRGGGI
AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHGLQPQVRTENQELQDCRTLNIQLAGPRGRPQKPIGS
CYITDPALKP*

Gene Symbol:BCKDK
Accession:NM_001122957
Location:EXON
Amino Acid Prediction: I to V (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MILASVLRSGPGGGLPLRPLLGPALALRARSTSATDTHHVEMARERSKTVTSFYNQSAIDAAAEKPSVRLTPTMMLYAGR
SQDGSHLLKSARYLQQELPVRIAHRIKGFRCLPFIIGCNPTILHVHELYIRAFQKLTDFPPIKDQADEAQYCQLVRQLLD
DHKDVVTLLAEGLRESRKHIEDEKLVRYFLDKTLTSRLGIRMLATHHLALHEDKPDFVGIICTRLSPKKIIEKWVDFARR
LCEHKYGNAPRVRINGHVAARFPFIPMPLDYILPELLKNAMRATMESHLDTPYNVPDVVITVANNDVDLIIRISDRGGGI
AHKDLDRVMDYHFTTAEASTQDPRISPLFGHLDMHSGAQSGPMHG*

Gene Symbol:BCKDK
Accession:NM_001271926
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000173819 CLINVAR
  RCV000765289 CLINVAR
dbSNP (RS) rs201164597 CLINVAR
MedGen C3554078 CLINVAR
  C3661900 CLINVAR
NCBI Gene BCKDK CLINVAR
OMIM 614901 CLINVAR
  614923 CLINVAR