RGD:9682595 Rat Genome Database

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Variant: RGD:9682595 -  Homo sapiens

RGD ID: 9682595
RS ID: rs587783675
ClinVar ID: CV168864
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ11  LOC127820554  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 17,408,651
GRCh38 11 17,387,104
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000525.3:c.988T>C
NG_012446.1:g.6556T>C
NC_000011.10:g.17387104A>G
NC_000011.9:g.17408651A>G
More... 		02/08/2013 missense variant pathogenic|uncertain significance Diabetes mellitus (disease); Mason type diabetes
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_000525
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 330
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSRKGIIPEEYVLTRLAEDPAKPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPHTLLIFTMSFL
CSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMIN
AIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM
ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVA
EEDGRYSVDHSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001166290
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDHSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001377296
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDHSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*

Gene Symbol:KCNJ11
Accession:NM_001377297
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCI
FMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGN
SIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYS
VDHSKFGNTVKVPTPLCTARQLDEDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS*
Variant Samples
Additional References at PubMed
PMID:15580558   PMID:15718250   PMID:18414213   PMID:26448950  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000146123 CLINVAR
  RCV002226690 CLINVAR
dbSNP (RS) rs587783675 CLINVAR
MedGen C0011849 CLINVAR
  C0342276 CLINVAR
NCBI Gene KCNJ11 CLINVAR
OMIM 600937 CLINVAR
  606391 CLINVAR
SNOMED CT 28453007 CLINVAR
  73211009 CLINVAR