RGD:12900369 Rat Genome Database

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Variant: RGD:12900369 -  Homo sapiens

RGD ID: 12900369
RS ID: rs1064796826
ClinVar ID: CV410873
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNJ6  KCNJ6-AS1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 39,087,384
GRCh38 21 37,715,081
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029892.2:g.206313G>T
NC_000021.9:g.37715081C>A
NC_000021.8:g.39087384C>A
NP_002231.1:p.Ala26Ser
More... 		03/13/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNJ6
Accession:NM_002240
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKLTESMTNVLEGDSMDQDVESPVSIHQPKLPKQARDDLPRHISRDRTKRKIQRYVRKDGKCNVHHGNVRETYRYLTDI
FTTLVDLKWRFNLLIFVMVYTVTWLFFGMIWWLIAYIRGDMDHIEDPSWTPCVTNLNGFVSAFLFSIETETTIGYGYRVI
TDKCPEGIILLLIQSVLGSIVNAFMVGCMFVKISQPKKRAETLVFSTHAVISMRDGKLCLMFRVGDLRNSHIVEASIRAK
LIKSKQTSEGEFIPLNQTDINVGYYTGDDRLFLVSPLIISHEINQQSPFWEISKAQLPKEELEIVVILEGMVEATGMTCQ
ARSSYITSEILWGYRFTPVLTLEDGFYEVDYNSFHETYETSTPSLSAKELAELASRAELPLSWSVSSKLNQHAELETEEE
EKNLEEQTERNGDVANLENESKV*

Gene Symbol:KCNJ6-AS1
Accession:NR_183540
Location:EXON;NON-CODING

Gene Symbol:
Accession:
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000482261 CLINVAR
dbSNP (RS) rs1064796826 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KCNJ6 CLINVAR
  KCNJ6-AS1 CLINVAR
OMIM 600877 CLINVAR