RGD:11636884 Rat Genome Database

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Variant: RGD:11636884 -  Homo sapiens

RGD ID: 11636884
RS ID: rs886044169
ClinVar ID: CV273631
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ10  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 160,011,329
GRCh38 1 160,041,539
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016411.1:g.33633C>G
NC_000001.11:g.160041539G>C
NC_000001.10:g.160011329G>C
NP_002232.2:p.Gln332Glu
More... 		08/03/2016 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNJ10
Accession:NM_002241
Location:EXON
Amino Acid Prediction: Q to E (nonsynonymous)
Amino Acid Position: 332
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSVAKVYYSQTTQTESRPLMGPGIRRRRVLTKDGRSNVRMEHIADKRFLYLKDLWTTFIDMQWRYKLLLFSATFAGTWF
LFGVVWYLVAVAHGDLLELDPPANHTPCVVQVHTLTGAFLFSLESQTTIGYGFRYISEECPLAIVLLIAQLVLTTILEIF
ITGTFLAKIARPKKRAETIRFSQHAVVASHNGKPCLMIRVANMRKSLLIGCQVTGKLLQTHQTKEGENIRLNQVNVTFQV
DTASDSPFLILPLTFYHVVDETSPLKDLPLRSGEGDFELVLILSGTVESTSATCQVRTSYLPEEILWGYEFTPAISLSAS
GKYIADFSLFDEVVKVASPSGLRDSTVRYGDPEKLKLEESLREQAEKEGSALSVRISNV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000275305 CLINVAR
dbSNP (RS) rs886044169 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KCNJ10 CLINVAR
OMIM 602208 CLINVAR