RGD:13808886 Rat Genome Database

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Variant: RGD:13808886 -  Homo sapiens

RGD ID: 13808886
RS ID: rs1557732150
ClinVar ID: CV556834
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNA2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 111,146,377
GRCh38 1 110,603,755
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027997.2:g.32720C>T
NC_000001.11:g.110603755G>A
NC_000001.10:g.111146377G>A
NP_004965.1:p.Ser343Phe
More... 		02/11/2018 intron variant uncertain significance Epileptic encephalopathy, early infantile, 32
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNA2
Accession:XM_011541398
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVATGDPADEAAALPGHPQDTYDPEADHECCERVVINISGLRFETQLKTLAQFPETLLGDPKKRMRYFDPLRNEYFFDR
NRPSFDAILYYYQSGGRLRRPVNVPLDIFSEEIRFYELGEEAMEMFREDEGYIKEEERPLPENEFQRQVWLLFEYPESSG
PARIIAIVSVMVILISIVSFCLETLPIFRDENEDMHGSGVTFHTYSNSTIGYQQSTSFTDPFFIVETLCIIWFSFEFLVR
FFACPSKAGFFTNIMNIIDIVAIIPYFITLGTELAEKPEDAQQGQQAMSLAILRVIRLVRVFRIFKLSRHSKGLQILGQT
LKASMRELGLLIFFLFIGVILFFSAVYFAEADERESQFPSIPDAFWWAVVSMTTVGYGDMVPTTIGGKIVGSLCAIAGVL
TIALPVPVIVSNFNYFYHRETEGEEQAQYLQVTSCPKIPSSPDLKKSRSASTISKSDYMEIQEGVNNSNEDFREENLKTA
NCTLANTNYVNITKMLTDV*

Gene Symbol:KCNA2
Accession:NM_004974
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVATGDPADEAAALPGHPQDTYDPEADHECCERVVINISGLRFETQLKTLAQFPETLLGDPKKRMRYFDPLRNEYFFDR
NRPSFDAILYYYQSGGRLRRPVNVPLDIFSEEIRFYELGEEAMEMFREDEGYIKEEERPLPENEFQRQVWLLFEYPESSG
PARIIAIVSVMVILISIVSFCLETLPIFRDENEDMHGSGVTFHTYSNSTIGYQQSTSFTDPFFIVETLCIIWFSFEFLVR
FFACPSKAGFFTNIMNIIDIVAIIPYFITLGTELAEKPEDAQQGQQAMSLAILRVIRLVRVFRIFKLSRHSKGLQILGQT
LKASMRELGLLIFFLFIGVILFFSAVYFAEADERESQFPSIPDAFWWAVVSMTTVGYGDMVPTTIGGKIVGSLCAIAGVL
TIALPVPVIVSNFNYFYHRETEGEEQAQYLQVTSCPKIPSSPDLKKSRSASTISKSDYMEIQEGVNNSNEDFREENLKTA
NCTLANTNYVNITKMLTDV*

Gene Symbol:KCNA2
Accession:XM_011541396
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVATGDPADEAAALPGHPQDTYDPEADHECCERVVINISGLRFETQLKTLAQFPETLLGDPKKRMRYFDPLRNEYFFDR
NRPSFDAILYYYQSGGRLRRPVNVPLDIFSEEIRFYELGEEAMEMFREDEGYIKEEERPLPENEFQRQVWLLFEYPESSG
PARIIAIVSVMVILISIVSFCLETLPIFRDENEDMHGSGVTFHTYSNSTIGYQQSTSFTDPFFIVETLCIIWFSFEFLVR
FFACPSKAGFFTNIMNIIDIVAIIPYFITLGTELAEKPEDAQQGQQAMSLAILRVIRLVRVFRIFKLSRHSKGLQILGQT
LKASMRELGLLIFFLFIGVILFFSAVYFAEADERESQFPSIPDAFWWAVVSMTTVGYGDMVPTTIGGKIVGSLCAIAGVL
TIALPVPVIVSNFNYFYHRETEGEEQAQYLQVTSCPKIPSSPDLKKSRSASTISKSDYMEIQEGVNNSNEDFREENLKTA
NCTLANTNYVNITKMLTDV*

Gene Symbol:KCNA2
Accession:XM_011541400
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVATGDPADEAAALPGHPQDTYDPEADHECCERVVINISGLRFETQLKTLAQFPETLLGDPKKRMRYFDPLRNEYFFDR
NRPSFDAILYYYQSGGRLRRPVNVPLDIFSEEIRFYELGEEAMEMFREDEGYIKEEERPLPENEFQRQVWLLFEYPESSG
PARIIAIVSVMVILISIVSFCLETLPIFRDENEDMHGSGVTFHTYSNSTIGYQQSTSFTDPFFIVETLCIIWFSFEFLVR
FFACPSKAGFFTNIMNIIDIVAIIPYFITLGTELAEKPEDAQQGQQAMSLAILRVIRLVRVFRIFKLSRHSKGLQILGQT
LKASMRELGLLIFFLFIGVILFFSAVYFAEADERESQFPSIPDAFWWAVVSMTTVGYGDMVPTTIGGKIVGSLCAIAGVL
TIALPVPVIVSNFNYFYHRETEGEEQAQYLQVTSCPKIPSSPDLKKSRSASTISKSDYMEIQEGVNNSNEDFREENLKTA
NCTLANTNYVNITKMLTDV*

Gene Symbol:KCNA2
Accession:XM_017001213
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 343
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVATGDPADEAAALPGHPQDTYDPEADHECCERVVINISGLRFETQLKTLAQFPETLLGDPKKRMRYFDPLRNEYFFDR
NRPSFDAILYYYQSGGRLRRPVNVPLDIFSEEIRFYELGEEAMEMFREDEGYIKEEERPLPENEFQRQVWLLFEYPESSG
PARIIAIVSVMVILISIVSFCLETLPIFRDENEDMHGSGVTFHTYSNSTIGYQQSTSFTDPFFIVETLCIIWFSFEFLVR
FFACPSKAGFFTNIMNIIDIVAIIPYFITLGTELAEKPEDAQQGQQAMSLAILRVIRLVRVFRIFKLSRHSKGLQILGQT
LKASMRELGLLIFFLFIGVILFFSAVYFAEADERESQFPSIPDAFWWAVVSMTTVGYGDMVPTTIGGKIVGSLCAIAGVL
TIALPVPVIVSNFNYFYHRETEGEEQAQYLQVTSCPKIPSSPDLKKSRSASTISKSDYMEIQEGVNNSNEDFREENLKTA
NCTLANTNYVNITKMLTDV*

Gene Symbol:KCNA2
Accession:NM_001204269
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000701882 CLINVAR
dbSNP (RS) rs1557732150 CLINVAR
MedGen C4225350 CLINVAR
NCBI Gene KCNA2 CLINVAR
OMIM 176262 CLINVAR
  616366 CLINVAR