RGD:9682590 Rat Genome Database

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Variant: RGD:9682590 -  Homo sapiens

RGD ID: 9682590
RS ID: rs587783673
ClinVar ID: CV168868
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  LOC127820555  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 17,408,954
GRCh38 11 17,387,407
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012446.1:g.6253G>A
NC_000011.10:g.17387407C>T
NC_000011.9:g.17408954C>T
NP_000516.3:p.Glu229Lys
More... 		04/28/2014 missense variant pathogenic|likely risk allele Diabetes mellitus (disease); Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; none provided; Type II diabetes mellitus
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNJ11
Accession:NM_001377296
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGKVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001377297
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGKVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001166290
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGKVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_000525
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFL
CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN
AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGKVVPLHQVDIPM
ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA
EEDGRYSVDYSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*
Variant Samples
Additional References at PubMed
PMID:17021801   PMID:17327377   PMID:18414213   PMID:18559200   PMID:22619292   PMID:23462667   PMID:25741868   PMID:26839896   PMID:28350539   PMID:28492532   PMID:28766502   PMID:32418263  
PMID:32792356   PMID:33852230   PMID:34566892  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000146117 CLINVAR
  RCV002226687 CLINVAR
  RCV003338421 CLINVAR
  RCV003556188 CLINVAR
dbSNP (RS) rs587783673 CLINVAR
MedGen C0011849 CLINVAR
  C0011860 CLINVAR
  C3661900 CLINVAR
  C5394296 CLINVAR
NCBI Gene KCNJ11 CLINVAR
OMIM 125853 CLINVAR
  600937 CLINVAR
  618856 CLINVAR
SNOMED CT 44054006 CLINVAR
  73211009 CLINVAR