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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. SCN1A, sodium channel, voltage-gated, type I, alpha subunit
Sequence ID:NM_001165963
NM_001165964
NM_006920
NM_001202435
RefSeqGene ID:NG_011906
Entrez Gene ID:6323
Ensembl ID:ENSG00000144285

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
DRAVET SYNDROMEGABRG2
SCN9A
EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 1GABRD
GABRG2
SCN1B
EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2SCN9A
MIGRAINE, FAMILIAL HEMIPLEGIC, 3 

Cytogenetic Location (from UniGene)

Cytogenetic Location:2q24.3Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:2: 166847754 - 166930131

 Exon Info From UCSC:
NM_001165963
NM_001165964
NM_006920

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
9094253IncompleteBC172767sodium channel, voltage-gated, type I, alpha
9094284IncompleteBC172798sodium channel, voltage-gated, type I, alpha

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001165963 NP_001159435 P35498  
NM_001165964 NP_001159436    
NM_001202435 NP_001189364    
NM_006920 NP_008851    

Related Sequences

 
mRNAGenPeptSwissProt
AF225985 AAK00217 P35498
AY043484 AAK95360 P35498
EU368119 ABY76307  
HQ726795 AEJ07962 F8T7W4
HQ726796 AEJ07963 F8T7W5
HQ726798 AEJ07965 F8T7W7
HQ726799 AEJ07966 F8T7W8
AB093548 BAC21101 P35498
AB093549 BAC21102 P35498
AB098335 BAC45228 Q8IUJ6
AK293759 BAG57178 B4DER7
AK294900 BAG57989 B4DH28
X65362 CAA46439 P35498

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens SCN1A NP_001159435 M.musculus Scn1a 20265 Gene Info NP_061203 98
R.norvegicus Scn1a 81574   NP_110502 98

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)