RGD:12912622 Rat Genome Database

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Variant: RGD:12912622 -  Homo sapiens

RGD ID: 12912622
RS ID: rs1131691765
ClinVar ID: CV421928
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 5,022,010
GRCh38 12 4,912,844
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000217.2:c.1466G>A
NG_011815.1:g.7938G>A
NC_000012.12:g.4912844G>A
NC_000012.11:g.5022010G>A
More... 		05/05/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KCNA1
Accession:NM_000217
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 489
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVMSGENVDEASAAPGHPQDGSYPRQADHDDHECCERVVINISGLRFETQLKTLAQFPNTLLGNPKKRMRYFDPLRNEY
FFDRNRPSFDAILYYYQSGGRLRRPVNVPLDMFSEEIKFYELGEEAMEKFREDEGFIKEEERPLPEKEYQRQVWLLFEYP
ESSGPARVIAIVSVMVILISIVIFCLETLPELKDDKDFTGTVHRIDNTTVIYNSNIFTDPFFIVETLCIIWFSFELVVRF
FACPSKTDFFKNIMNFIDIVAIIPYFITLGTEIAEQEGNQKGEQATSLAILRVIRLVRVFRIFKLSRHSKGLQILGQTLK
ASMRELGLLIFFLFIGVILFSSAVYFAEAEEAESHFSSIPDAFWWAVVSMTTVGYGDMYPVTIGGKIVGSLCAIAGVLTI
ALPVPVIVSNFNYFYHRETEGEEQAQLLHVSSPNLASDSDLSRRSSSTMSKSEYMEIEEDMNNSIAHYRQVNIRTANCTT
ANQNCVNKNKLLTDV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000492814 CLINVAR
dbSNP (RS) rs1131691765 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KCNA1 CLINVAR
OMIM 176260 CLINVAR