RGD:8623383 Rat Genome Database

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Variant: RGD:8623383 -  Homo sapiens

RGD ID: 8623383
RS ID: rs199473374
ClinVar ID: CV78466
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 68,171,481
GRCh38 17 70,175,340
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_328t1:c.301T>C
LRG_328:g.10806T>C
NG_008798.1:g.10806T>C
NC_000017.11:g.70175340T>C
More... 		missense|missense variant pathogenic|not provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:KCNJ2
Accession:NM_000891
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRSRFVKKDGHCNVQFINVGEKGQRYLADIFTTCVDIR
WRWMLVIFCLAFVLSWLFFGRVFWLIALLHGDLDASKEGKACVSEVNSFTAAFLFSIETQTTIGYGFRCVTDECPIAVFM
VVFQSIVGCIIDAFIIGAVMAKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLRKSHLVEAHVRAQLLKSRITSEG
EYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIVVILEGMVEATAMTTQCRSSYLANEI
LWGHRYEPVLFEEKHYYKVDYSRFHKTYEVPNTPLCSARDLAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTST
DTPPDIDLHNQASVPLEPRPLRRESEI*
Variant Samples
Additional References at PubMed
PMID:15851159   PMID:15911703   PMID:22581653  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000058308 CLINVAR
dbSNP (RS) rs199473374 CLINVAR
MedGen C0042514 CLINVAR
NCBI Gene KCNJ2 CLINVAR
OMIM 600681 CLINVAR
SNOMED CT 25569003 CLINVAR