2024-04-23 17:38:58, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001040142 8810 bp mRNA linear PRI 05-MAY-2013 DEFINITION Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA. ACCESSION NM_001040142 VERSION NM_001040142.1 GI:93141211 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 8810) AUTHORS Zara,F., Specchio,N., Striano,P., Robbiano,A., Gennaro,E., Paravidino,R., Vanni,N., Beccaria,F., Capovilla,G., Bianchi,A., Caffi,L., Cardilli,V., Darra,F., Bernardina,B.D., Fusco,L., Gaggero,R., Giordano,L., Guerrini,R., Incorpora,G., Mastrangelo,M., Spaccini,L., Laverda,A.M., Vecchi,M., Vanadia,F., Veggiotti,P., Viri,M., Occhi,G., Budetta,M., Taglialatela,M., Coviello,D.A., Vigevano,F. and Minetti,C. TITLE Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance JOURNAL Epilepsia 54 (3), 425-436 (2013) PUBMED 23360469 REMARK GeneRIF: Identification of a novel SCN2A mutation in a family with infantile seizures with onset between 6 and 8 months provides further confirmation that this gene is involved in families with a delayed age of onset. REFERENCE 2 (bases 1 to 8810) AUTHORS Goeggel Simonetti,B., Rieubland,C., Courage,C., Strozzi,S., Tschumi,S., Gallati,S. and Lemke,J.R. TITLE Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy JOURNAL Epilepsia 53 (12), 2128-2134 (2012) PUBMED 23016767 REMARK GeneRIF: This study demonistrated that associated with a duplication of the SCN2A and SCN3A gene cluster on 2q24 in patient with early onset epilepsy. Review article REFERENCE 3 (bases 1 to 8810) AUTHORS Kobayashi,K., Ohzono,H., Shinohara,M., Saitoh,M., Ohmori,I., Ohtsuka,Y. and Mizuguchi,M. TITLE Acute encephalopathy with a novel point mutation in the SCN2A gene JOURNAL Epilepsy Res. 102 (1-2), 109-112 (2012) PUBMED 22591750 REMARK GeneRIF: This finding suggests that SCN2A mutation is a predisposing factor for acute encephalopathy. REFERENCE 4 (bases 1 to 8810) AUTHORS Lossin,C., Shi,X., Rogawski,M.A. and Hirose,S. TITLE Compromised function in the Na(v)1.2 Dravet syndrome mutation R1312T JOURNAL Neurobiol. Dis. 47 (3), 378-384 (2012) PUBMED 22677033 REMARK GeneRIF: This study demonistrated the detailed functional analysis of Na(v)1.2 mutant, R1312T, which was originally found in a child with Dravet syndrome. REFERENCE 5 (bases 1 to 8810) AUTHORS Sugiura,Y., Ogiwara,I., Hoshi,A., Yamakawa,K. and Ugawa,Y. TITLE Different degrees of loss of function between GEFS+ and SMEI Nav 1.1 missense mutants at the same residue induced by rescuable folding defects JOURNAL Epilepsia 53 (6), E111-E114 (2012) PUBMED 22525008 REMARK GeneRIF: The results of this study shown that both A1685V (GEFS+) and A1685D (SMEI) mutant Nav1.1 channels are characterized by complete loss of function when they are expressed alone REFERENCE 6 (bases 1 to 8810) AUTHORS Lu,C.M., Eichelberger,J.S., Beckman,M.L., Schade,S.D. and Brown,G.B. TITLE Isolation of the 5'-flanking region for human brain sodium channel subtype II alpha-subunit JOURNAL J. Mol. Neurosci. 11 (3), 179-182 (1998) PUBMED 10344788 REFERENCE 7 (bases 1 to 8810) AUTHORS Ahmed,C.M., Ware,D.H., Lee,S.C., Patten,C.D., Ferrer-Montiel,A.V., Schinder,A.F., McPherson,J.D., Wagner-McPherson,C.B., Wasmuth,J.J., Evans,G.A. et al. TITLE Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain JOURNAL Proc. Natl. Acad. Sci. U.S.A. 89 (17), 8220-8224 (1992) PUBMED 1325650 REFERENCE 8 (bases 1 to 8810) AUTHORS Lu,C.M., Han,J., Rado,T.A. and Brown,G.B. TITLE Differential expression of two sodium channel subtypes in human brain JOURNAL FEBS Lett. 303 (1), 53-58 (1992) PUBMED 1317301 REFERENCE 9 (bases 1 to 8810) AUTHORS Han,J.A., Lu,C.M., Brown,G.B. and Rado,T.A. TITLE Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23 JOURNAL Proc. Natl. Acad. Sci. U.S.A. 88 (2), 335-339 (1991) PUBMED 1846440 REFERENCE 10 (bases 1 to 8810) AUTHORS Litt,M., Luty,J., Kwak,M., Allen,L., Magenis,R.E. and Mandel,G. TITLE Localization of a human brain sodium channel gene (SCN2A) to chromosome 2 JOURNAL Genomics 5 (2), 204-208 (1989) PUBMED 2571571 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from BP199510.1, M94055.1, BP311214.1, DA232976.1, AC011303.9 and BU729783.1. This sequence is a reference standard in the RefSeqGene project. Summary: Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is heterogeneously expressed in the brain, and mutations in this gene have been linked to several seizure disorders. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]. Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1). Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## CDS exon combination :: M94055.1 [ECO:0000331] RNAseq introns :: single sample supports all introns ERS025082, ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-582 BP199510.1 1-582 583-1860 M94055.1 398-1675 1861-2046 BP311214.1 319-504 2047-4263 M94055.1 1862-4078 4264-4674 DA232976.1 154-564 4675-5591 M94055.1 4490-5406 5592-8258 AC011303.9 117675-120341 8259-8810 BU729783.1 1-552 c FEATURES Location/Qualifiers source 1..8810 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2q24.3" gene 1..8810 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /note="sodium channel, voltage-gated, type II, alpha subunit" /db_xref="GeneID:6326" /db_xref="HGNC:10588" /db_xref="MIM:182390" exon 1..239 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 37 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:185265887" variation 170 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:188852724" exon 240..557 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 256 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:372948005" misc_feature 267..269 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /note="upstream in-frame stop codon" CDS 291..6308 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /note="isoform 1 is encoded by transcript variant 2; sodium channel, voltage-gated, type II, alpha 2 polypeptide; sodium channel, voltage-gated, type II, alpha 1 polypeptide; sodium channel protein, brain type 2 alpha subunit; voltage-gated sodium channel subtype II; HBSC II; sodium channel protein type II subunit alpha; sodium channel protein brain II subunit alpha; voltage-gated sodium channel subunit alpha Nav1.2" /codon_start=1 /product="sodium channel protein type 2 subunit alpha isoform 1" /protein_id="NP_001035232.1" /db_xref="GI:93141212" /db_xref="CCDS:CCDS33314.1" /db_xref="GeneID:6326" /db_xref="HGNC:10588" /db_xref="MIM:182390" /translation="
MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQERKDEDDENGPKPNSDLEAGKSLPFIYGDIPPEMVSVPLEDLDPYYINKKTFIVLNKGKAISRFSATPALYILTPFNPIRKLAIKILVHSLFNMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKILARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQWPPDNSSFEINITSFFNNSLDGNGTTFNRTVSIFNWDEYIEDKSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAAAAAASAESRDFSGAGGIGVFSESSSVASKLSSKSEKELKNRRKKKKQKEQSGEEEKNDRVRKSESEDSIRRKGFRFSLEGSRLTYEKRFSSPHQSLLSIRGSLFSPRRNSRASLFSFRGRAKDIGSENDFADDEHSTFEDNDSRRDSLFVPHRHGERRHSNVSQASRASRVLPILPMNGKMHSAVDCNGVVSLVGGPSTLTSAGQLLPEGTTTETEIRKRRSSSYHVSMDLLEDPTSRQRAMSIASILTNTMEELEESRQKCPPCWYKFANMCLIWDCCKPWLKVKHLVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEQFSSVLSVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVSLSLMELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKISNDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCLTVFMMVMVIGNLVVLNLFLALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDFVKRKIREFIQKAFVRKQKALDEIKPLEDLNNKKDSCISNHTTIEIGKDLNYLKDGNGTTSGIGSSVEKYVVDESDYMSFINNPSLTVTVPIAVGESDFENLNTEEFSSESDMEESKEKLNATSSSEGSTVDIGAPAEGEQPEVEPEESLEPEACFTEDCVRKFKCCQISIEEGKGKLWWNLRKTCYKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGFQVYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINYTTGEMFDVSVVNNYSECKALIESNQTARWKNVKVNFDNVGLGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEDNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILICLNMVTMMVETDDQSQEMTNILYWINLVFIVLFTGECVLKLISLRYYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSGPPDCDPDKDHPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFIEFAKLSDFADALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYEPITTTLKRKQEEVSAIIIQRAYRRYLLKQKVKKVSSIYKKDKGKECDGTPIKEDTLIDKLNENSTPEKTDMTPSTTSPPSYDSVTKPEKEKFEKDKSEKEDKGKDIRESKK
" misc_feature 621..1658 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); Region: I" misc_feature 663..734 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 759..818 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 762..>1178 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /note="Ion transport protein; Region: Ion_trans; pfam00520" /db_xref="CDD:201279" misc_feature 858..914 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 933..992 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 1041..1112 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature <1347..1562 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /note="Ion transport protein; Region: Ion_trans; pfam00520" /db_xref="CDD:201279" misc_feature 1494..1571 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 1851..2420 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /note="Domain of unknown function (DUF3451); Region: DUF3451; pfam11933" /db_xref="CDD:204785" misc_feature 2511..3329 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); Region: II" misc_feature 2550..2624 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 2658..2729 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 2673..3200 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /note="Ion transport protein; Region: Ion_trans; pfam00520" /db_xref="CDD:201279" misc_feature 2754..2813 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 2832..2891 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 2940..3002 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 3162..3239 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 3279..3944 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /note="Sodium ion transport-associated; Region: Na_trans_assoc; pfam06512" /db_xref="CDD:203469" misc_feature 3858..4802 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); Region: III" misc_feature 3900..3971 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 4011..4088 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 4020..4706 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /note="Ion transport protein; Region: Ion_trans; pfam00520" /db_xref="CDD:201279" misc_feature 4107..4172 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 4185..4250 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 4308..4391 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 4629..4709 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 4827..5723 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); Region: IV" misc_feature 4869..4940 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 4974..5045 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 4983..5462 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /note="Ion transport protein; Region: Ion_trans; pfam00520" /db_xref="CDD:201279" misc_feature 5064..5135 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 5166..5231 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 5277..5345 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" misc_feature 5544..5618 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q99250.3); transmembrane region" variation 314 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:149534277" variation 346 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:17183814" variation 372 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:200884216" variation 376 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:370552463" variation 390 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:144814658" variation 428 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:145233994" variation 522 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="" /replace="c" /db_xref="dbSNP:34411329" variation 527 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:200479065" variation 542 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:143065769" variation 545 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:199657941" exon 558..676 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 594 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:387906683" variation 601 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:139756067" variation 651 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:374951365" exon 677..766 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 741 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:200109956" exon 767..895 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 809 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:200941759" variation 825 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:374706133" variation 852 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:121917748" variation 889 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:202234412" exon 896..987 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 902 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:2228982" variation 908 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:2228983" variation 920 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:2228984" variation 929 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:2228985" variation 934 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:149024364" variation 935 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:370724112" variation 958 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:121917752" variation 962 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="t" /db_xref="dbSNP:2228986" variation 971 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="t" /db_xref="dbSNP:2228987" exon 988..1260 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 1044 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:387906687" variation 1070 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:373858906" variation 1078 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:387906686" variation 1113 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:181327458" variation 1130 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:377200041" variation 1169 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:201685102" variation 1187 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:143765389" variation 1206 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="t" /db_xref="dbSNP:370114048" variation 1242 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:149987700" variation 1250 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:185590667" exon 1261..1324 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" exon 1325..1466 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 1326 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:201798537" variation 1331 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:201602732" variation 1376 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:145226312" variation 1385 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:2227900" variation 1444 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="t" /db_xref="dbSNP:2228988" exon 1467..1673 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 1559 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:139815570" variation 1596 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:376323449" variation 1645 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:368212942" variation 1666 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:184769423" exon 1674..1961 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 1676 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:145912536" variation 1679 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:9333575" variation 1680..1681 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="g" /db_xref="dbSNP:1821219" variation 1688 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:373430899" variation 1706 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:200246820" variation 1731 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:369488860" variation 1747 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:373691845" variation 1769 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:182457234" variation 1774 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="g" /db_xref="dbSNP:140661535" variation 1815 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="" /replace="a" /db_xref="dbSNP:201328479" variation 1817 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:150087890" variation 1826 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:201680546" variation 1861 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:186154973" variation 1868 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:141269163" variation 1895 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:367647572" variation 1904 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:377052389" exon 1962..2306 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 2002 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:138138150" variation 2045 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="g" /db_xref="dbSNP:370685828" variation 2049 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:148275498" variation 2075 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:141815642" variation 2131 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:143734912" variation 2132 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:114315466" variation 2156 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:377388875" variation 2179 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:150040573" variation 2231 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:370300941" variation 2243 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:199722574" variation 2249 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:200546427" variation 2261 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:149230197" variation 2266 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:368887417" variation 2282 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:368988956" exon 2307..2439 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 2313 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:371601218" variation 2324 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:147891446" variation 2340 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:200783308" variation 2341 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:146949852" variation 2373 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:368043574" variation 2381 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:371367811" variation 2382 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:112873552" variation 2393 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:370024759" exon 2440..2678 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 2642 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:369101059" variation 2670 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:75145688" exon 2679..2852 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 2679 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:142128956" exon 2853..3209 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 2957 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:371712640" variation 2964 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:121917751" variation 2996 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="g" /db_xref="dbSNP:192461273" variation 3013 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:2228980" variation 3028 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:367859080" variation 3056 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="g" /db_xref="dbSNP:202006528" variation 3116 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:139621302" variation 3149 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:139967593" exon 3210..3689 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 3213 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:375858093" variation 3245 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:149859004" variation 3289 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:369436659" variation 3297 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:121917754" variation 3332 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:370200920" variation 3355 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:376774884" variation 3413 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:147576541" variation 3423 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:369128399" variation 3433 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="t" /db_xref="dbSNP:200750708" variation 3473 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:151204987" variation 3485 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:150369313" variation 3500 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:187731029" variation 3503 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:199997352" variation 3531 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:112095600" variation 3620 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:138143967" variation 3673 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:373780066" exon 3690..3810 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 3701 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:112270017" variation 3743 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:145662546" variation 3746 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:144325450" variation 3747 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:200138205" variation 3775 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="t" /db_xref="dbSNP:201124054" exon 3811..3965 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 3819 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:115231482" variation 3841 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:141529326" variation 3869 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:367546924" variation 3884 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:140194137" variation 3920 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:371422797" variation 3921 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:387906684" variation 3930 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:376640923" variation 3934 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:78332743" exon 3966..4139 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 4059..4060 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="" /replace="a" /db_xref="dbSNP:35860644" variation 4130 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="g" /db_xref="dbSNP:145025401" exon 4140..4262 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 4244 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:139507841" variation 4245 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:190111194" variation 4246 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:121917753" exon 4263..4544 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 4278 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:121917749" variation 4298 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:202160438" variation 4400 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:148868382" variation 4424 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:145465905" variation 4504 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:74881030" variation 4544 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:200415183" exon 4545..4598 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 4547 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:141153302" variation 4550 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:138241682" variation 4577 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:150209984" exon 4599..4736 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 4704 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:368657915" variation 4709 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:387906685" exon 4737..4841 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 4829 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="t" /db_xref="dbSNP:200553623" exon 4842..5112 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 4855 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="g" /db_xref="dbSNP:147522594" variation 4886 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:371690453" STS 4920..5335 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /standard_name="Scn1a" /db_xref="UniSTS:516635" STS 4920..5312 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /standard_name="Scn3a" /db_xref="UniSTS:516640" variation 4977 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="g" /db_xref="dbSNP:121917750" variation 5009 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="g" /db_xref="dbSNP:374952775" variation 5038 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:367566833" variation 5065 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:199641159" exon 5113..8794 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /inference="alignment:Splign:1.39.8" variation 5126 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:144133411" variation 5132 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:148604854" variation 5150 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:369939991" variation 5159 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:200960967" variation 5204 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="t" /db_xref="dbSNP:2060198" variation 5216 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:144090835" variation 5279 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:373347369" variation 5312 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:186157680" variation 5409 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:2227897" variation 5411 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:377063535" variation 5445 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:199698414" variation 5498 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:200016923" variation 5507 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:2227899" variation 5519 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:2227898" variation 5597 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:368219568" variation 5609 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:373913233" variation 5616 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:138123155" variation 5654 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:199925238" variation 5687 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:200603552" variation 5723 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="g" /db_xref="dbSNP:143238782" variation 5736 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:147084515" variation 5758 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:138497939" variation 5795 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:6706924" variation 5807 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:148424455" variation 5831 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:371704720" STS 5851..6680 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /standard_name="SCN2A2_3453" /db_xref="UniSTS:471750" variation 5858 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:144058186" variation 5915 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:374716270" variation 5919 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="" /replace="a" /db_xref="dbSNP:35761080" variation 5941 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:111885055" variation 5989 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:75573978" variation 5994 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:367833365" variation 6008 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:112785349" variation 6018 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:52803844" variation 6021 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:372294906" variation 6023 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:376740497" variation 6042 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:139899756" variation 6043 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:201718767" variation 6047 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:140417984" variation 6063 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:145727224" variation 6097 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:113329821" STS 6140..6240 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /standard_name="SHGC-30518" /db_xref="UniSTS:41135" variation 6140 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:147055283" variation 6187 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:112098080" variation 6200 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:75057869" variation 6209 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:73025979" variation 6221 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:187728892" STS 6338..6480 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /standard_name="WI-18792" /db_xref="UniSTS:64336" variation 6342 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:202213909" variation 6355 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:377384458" variation 6467 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:190949392" variation 6501 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:370769868" variation 6560 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:111786814" variation 6684 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:376498111" variation 6725 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:141754622" variation 6865 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:182846824" variation 6999 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="" /replace="a" /db_xref="dbSNP:200982981" variation 7161 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:188104763" variation 7289 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:192887453" variation 7364 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:184628337" variation 7540 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:150561084" STS 7615..7808 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /standard_name="SHGC-53406" /db_xref="UniSTS:12985" STS 7629..7808 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /standard_name="RH45814" /db_xref="UniSTS:12984" variation 7641 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="t" /db_xref="dbSNP:375025725" variation 7706 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:376966498" variation 7782 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:138232803" variation 7815 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:149580267" variation 8015 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="t" /db_xref="dbSNP:13398761" variation 8021 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:1007722" variation 8045 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:5024424" variation 8061 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:74881341" variation 8066 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="t" /db_xref="dbSNP:75263553" variation 8156 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="" /replace="a" /db_xref="dbSNP:71769609" STS 8159..8335 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /standard_name="RH79255" /db_xref="UniSTS:39161" variation 8286 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:373767489" variation 8307 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="g" /db_xref="dbSNP:4633934" polyA_signal 8506..8511 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" variation 8530 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:187365022" polyA_site 8537 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" variation 8613 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:371709148" variation 8666 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="c" /db_xref="dbSNP:191911206" variation 8672 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:73969402" variation 8730 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="g" /replace="t" /db_xref="dbSNP:73972503" variation 8731 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:77976453" variation 8748 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="c" /replace="g" /db_xref="dbSNP:73972504" polyA_signal 8770..8775 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" variation 8788 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" /replace="a" /replace="g" /db_xref="dbSNP:184839439" polyA_site 8794 /gene="SCN2A" /gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI; HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2" ORIGIN
atgctgttttctaacagacattgggtaccatcgaatgactgtcagaacagaaagctaaggcaaaggagggaggatgctgtggtcatcctttcttgtttttttcttctttaatgaggatagagcacatgtgagattttactttctactccagtaaaaattctgaagaattgcattggagactgttatattcaacacatacgtggattctgtgttatgatttacatttttctttatttcagcactttcttatgcaaggagctaaacagtgattaaaggagcaggatgaaaagatggcacagtcagtgctggtaccgccaggacctgacagcttccgcttctttaccagggaatcccttgctgctattgaacaacgcattgcagaagagaaagctaagagacccaaacaggaacgcaaggatgaggatgatgaaaatggcccaaagccaaacagtgacttggaagcaggaaaatctcttccatttatttatggagacattcctccagagatggtgtcagtgcccctggaggatctggacccctactatatcaataagaaaacgtttatagtattgaataaagggaaagcaatctctcgattcagtgccacccctgccctttacattttaactcccttcaaccctattagaaaattagctattaagattttggtacattctttattcaatatgctcattatgtgcacgattcttaccaactgtgtatttatgaccatgagtaaccctccagactggacaaagaatgtggagtatacctttacaggaatttatacttttgaatcacttattaaaatacttgcaaggggcttttgtttagaagatttcacatttttacgggatccatggaattggttggatttcacagtcattacttttgcatatgtgacagagtttgtggacctgggcaatgtctcagcgttgagaacattcagagttctccgagcattgaaaacaatttcagtcattccaggcctgaagaccattgtgggggccctgatccagtcagtgaagaagctttctgatgtcatgatcttgactgtgttctgtctaagcgtgtttgcgctaataggattgcagttgttcatgggcaacctacgaaataaatgtttgcaatggcctccagataattcttcctttgaaataaatatcacttccttctttaacaattcattggatgggaatggtactactttcaataggacagtgagcatatttaactgggatgaatatattgaggataaaagtcacttttattttttagaggggcaaaatgatgctctgctttgtggcaacagctcagatgcaggccagtgtcctgaaggatacatctgtgtgaaggctggtagaaaccccaactatggctacacgagctttgacacctttagttgggcctttttgtccttatttcgtctcatgactcaagacttctgggaaaacctttatcaactgacactacgtgctgctgggaaaacgtacatgatattttttgtgctggtcattttcttgggctcattctatctaataaatttgatcttggctgtggtggccatggcctatgaggaacagaatcaggccacattggaagaggctgaacagaaggaagctgaatttcagcagatgctcgaacagttgaaaaagcaacaagaagaagctcaggcggcagctgcagccgcatctgctgaatcaagagacttcagtggtgctggtgggataggagttttttcagagagttcttcagtagcatctaagttgagctccaaaagtgaaaaagagctgaaaaacagaagaaagaaaaagaaacagaaagaacagtctggagaagaagagaaaaatgacagagtccgaaaatcggaatctgaagacagcataagaagaaaaggtttccgtttttccttggaaggaagtaggctgacatatgaaaagagattttcttctccacaccagtccttactgagcatccgtggctcccttttctctccaagacgcaacagtagggcgagccttttcagcttcagaggtcgagcaaaggacattggctctgagaatgactttgctgatgatgagcacagcacctttgaggacaatgacagccgaagagactctctgttcgtgccgcacagacatggagaacggcgccacagcaatgtcagccaggccagccgtgcctccagggtgctccccatcctgcccatgaatgggaagatgcatagcgctgtggactgcaatggtgtggtctccctggtcgggggcccttctaccctcacatctgctgggcagctcctaccagagggcacaactactgaaacagaaataagaaagagacggtccagttcttatcatgtttccatggatttattggaagatcctacatcaaggcaaagagcaatgagtatagccagtattttgaccaacaccatggaagaacttgaagaatccagacagaaatgcccaccatgctggtataaatttgctaatatgtgtttgatttgggactgttgtaaaccatggttaaaggtgaaacaccttgtcaacctggttgtaatggacccatttgttgacctggccatcaccatctgcattgtcttaaatacactcttcatggctatggagcactatcccatgacggagcagttcagcagtgtactgtctgttggaaacctggtcttcacagggatcttcacagcagaaatgtttctcaagataattgccatggatccatattattactttcaagaaggctggaatatttttgatggttttattgtgagccttagtttaatggaacttggtttggcaaatgtggaaggattgtcagttctccgatcattccggctgctccgagttttcaagttggcaaaatcttggccaactctaaatatgctaattaagatcattggcaattctgtgggggctctaggaaacctcaccttggtattggccatcatcgtcttcatttttgctgtggtcggcatgcagctctttggtaagagctacaaagaatgtgtctgcaagatttccaatgattgtgaactcccacgctggcacatgcatgactttttccactccttcctgatcgtgttccgcgtgctgtgtggagagtggatagagaccatgtgggactgtatggaggtcgctggccaaaccatgtgccttactgtcttcatgatggtcatggtgattggaaatctagtggttctgaacctcttcttggccttgcttttgagttccttcagttctgacaatcttgctgccactgatgatgataacgaaatgaataatctccagattgctgtgggaaggatgcagaaaggaatcgattttgttaaaagaaaaatacgtgaatttattcagaaagcctttgttaggaagcagaaagctttagatgaaattaaaccgcttgaagatctaaataataaaaaagacagctgtatttccaaccataccaccatagaaataggcaaagacctcaattatctcaaagacggaaatggaactactagtggcataggcagcagtgtagaaaaatatgtcgtggatgaaagtgattacatgtcatttataaacaaccctagcctcactgtgacagtaccaattgctgttggagaatctgactttgaaaatttaaatactgaagaattcagcagcgagtcagatatggaggaaagcaaagagaagctaaatgcaactagttcatctgaaggcagcacggttgatattggagctcccgccgagggagaacagcctgaggttgaacctgaggaatcccttgaacctgaagcctgttttacagaagactgtgtacggaagttcaagtgttgtcagataagcatagaagaaggcaaagggaaactctggtggaatttgaggaaaacatgctataagatagtggagcacaattggttcgaaaccttcattgtcttcatgattctgctgagcagtggggctctggcctttgaagatatatacattgagcagcgaaaaaccattaagaccatgttagaatatgctgacaaggttttcacttacatattcattctggaaatgctgctaaagtgggttgcatatggttttcaagtgtattttaccaatgcctggtgctggctagacttcctgattgttgatgtctcactggttagcttaactgcaaatgccttgggttactcagaacttggtgccatcaaatccctcagaacactaagagctctgaggccactgagagctttgtcccggtttgaaggaatgagggttgttgtaaatgctcttttaggagccattccatctatcatgaatgtacttctggtttgtctgatcttttggctaatattcagtatcatgggagtgaatctctttgctggcaagttttaccattgtattaattacaccactggagagatgtttgatgtaagcgtggtcaacaactacagtgagtgcaaagctctcattgagagcaatcaaactgccaggtggaaaaatgtgaaagtaaactttgataacgtaggacttggatatctgtctctacttcaagtagccacgtttaagggatggatggatattatgtatgcagctgttgattcacgaaatgtagaattacaacccaagtatgaagacaacctgtacatgtatctttattttgtcatctttattatttttggttcattctttaccttgaatcttttcattggtgtcatcatagataacttcaaccaacagaaaaagaagtttggaggtcaagacatttttatgacagaagaacagaagaaatactacaatgcaatgaaaaaactgggttcaaagaaaccacaaaaacccatacctcgacctgctaacaaattccaaggaatggtctttgattttgtaaccaaacaagtctttgatatcagcatcatgatcctcatctgccttaacatggtcaccatgatggtggaaaccgatgaccagagtcaagaaatgacaaacattctgtactggattaatctggtgtttattgttctgttcactggagaatgtgtgctgaaactgatctctcttcgttactactatttcactattggatggaatatttttgattttgtggtggtcattctctccattgtaggaatgtttctggctgaactgatagaaaagtattttgtgtcccctaccctgttccgagtgatccgtcttgccaggattggccgaatcctacgtctgatcaaaggagcaaaggggatccgcacgctgctctttgctttgatgatgtcccttcctgcgttgtttaacatcggcctccttcttttcctggtcatgttcatctacgccatctttgggatgtccaattttgcctatgttaagagggaagttgggatcgatgacatgttcaactttgagacctttggcaacagcatgatctgcctgttccaaattacaacctctgctggctgggatggattgctagcacctattcttaatagtggacctccagactgtgaccctgacaaagatcaccctggaagctcagttaaaggagactgtgggaacccatctgttgggattttcttttttgtcagttacatcatcatatccttcctggttgtggtgaacatgtacatcgcggtcatcctggagaacttcagtgttgctactgaagaaagtgcagagcctctgagtgaggatgactttgagatgttctatgaggtttgggagaagtttgatcccgatgcgacccagtttatagagtttgccaaactttctgattttgcagatgccctggatcctcctcttctcatagcaaaacccaacaaagtccagctcattgccatggatctgcccatggtgagtggtgaccggatccactgtcttgacatcttatttgcttttacaaagcgtgttttgggtgagagtggagagatggatgcccttcgaatacagatggaagagcgattcatggcatcaaacccctccaaagtctcttatgagcccattacgaccacgttgaaacgcaaacaagaggaggtgtctgctattattatccagagggcttacagacgctacctcttgaagcaaaaagttaaaaaggtatcaagtatatacaagaaagacaaaggcaaagaatgtgatggaacacccatcaaagaagatactctcattgataaactgaatgagaattcaactccagagaaaaccgatatgacgccttccaccacgtctccaccctcgtatgatagtgtgaccaaaccagaaaaagaaaaatttgaaaaagacaaatcagaaaaggaagacaaagggaaagatatcagggaaagtaaaaagtaaaaagaaaccaagaattttccattttgtgatcaattgtttacagcccgtgatggtgatgtgtttgtgtcaacaggactcccacaggaggtctatgccaaactgactgtttttacaaatgtatacttaaggtcagtgcctataacaagacagagacctctggtcagcaaactggaactcagtaaactggagaaatagtatcgatgggaggtttctattttcacaaccagctgacactgctgaagagcagaggcgtaatggctactcagacgataggaaccaatttaaaggggggagggaagttaaatttttatgtaaattcaacatgtgacacttgataatagtaattgtcaccagtgtttatgttttaactgccacacctgccatatttttacaaaacgtgtgctgtgaatttatcacttttctttttaattcacaggttgtttactattatatgtgactatttttgtaaatgggtttgtgtttggggagagggattaaagggagggaattctacatttctctattgtattgtataactggatatattttaaatggaggcatgctgcaattctcattcacacataaaaaaatcacatcacaaaagggaagagtttacttcttgtttcaggatgtttttagatttttgaggtgcttaaatagctattcgtatttttaaggtgtctcatccagaaaaaatttaatgtgcctgtaaatgttccatagaatcacaagcattaaagagttgttttatttttacataacccattaaatgtacatgtatatatgtatatatgtatatgtgcgtgtatatacatatatatgtatacacacatgcacacacagagatatacacataccattacattgtcattcacagtcccagcagcatgactatcacatttttgataagtgtcctttggcataaaataaaaatatcctatcagtcctttctaagaagcctgaattgaccaaaaaacatccccaccaccactttataaagttgattctgctttatcctgcagtattgtttagccatcttctgctcttggtaaggttgacatagtatatgtcaatttaaaaaataaaagtctgctttgtaaatagtaattttacccagtggtgcatgtttgagcaaacaaaaatgatgatttaagcacactacttattgcatcaaatatgtaccacagtaagtatagtttgcaagctttcaacaggtaatatgatgtaattggttccattatagtttgaagctgtcactgctgcatgtttatcttgcctatgctgctgtatcttattccttccactgttcagaagtctaatatgggaagccatatatcagtggtaaagtgaagcaaattgttctaccaagacctcattcttcatgtcattaagcaataggttgcagcaaacaaggaagagcttcttgctttttattcttccaaccttaattgaacactcaatgatgaaaagcccgactgtacaaacatgttgcaagctgcttaaatctgtttaaaatatatggttagagttttctaagaaaatataaatactgtaaaaagttcattttattttatttttcagccttttgtacgtaaaatgagaaattaaaagtatcttcaggtggatgtcacagtcactattgttagtttctgttcctagcacttttaaattgaagcacttcacaaaataagaagcaaggactaggatgcagtgtaggtttctgcttttttattagtactgtaaacttgcacacatttcaatgtgaaacaaatctcaaactgagttcaatgtttatttgctttcaatagtaatgccttatcattgaaagaggcttaaagaaaaaaaaaatcagctgatactcttggcattgcttgaatccaatgtttccacctagtctttttattcagtaatcatcagtcttttccaatgtttgtttacacagatagatcttattgacccatatggcactagaactgtatcagatataatatgggatcccagctttttttcctctcccacaaaaccaggtagtgaagttatattaccagttacagcaaaatactttgtgtttcacaagcaacaataaatgtagattctttatactgaagctattgacttgtagtgtgttggtgaaatgcatgcaggaaaatgctgttaccataaagaacggtaaaccacattacaatcaagccaaaagaataaaggtttcgcttttgtttttgtatttaattgttgtctttgtttctatctttgaaatgccatttaaaggtagatttctatcatgtaaaaataatctatctgaaaaacaaatgtaaagaacacacattaattactataattcatctttcaattttttcatggaatggaagttaattaagaagagtgtattggataactactttaatattggccaaaaagctagatatggcatcaggtagactagtggaaagttacaaaaattaataaaaaattgactaacattttaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:6326 -> Molecular function: GO:0005248 [voltage-gated sodium channel activity] evidence: IEA GeneID:6326 -> Biological process: GO:0006814 [sodium ion transport] evidence: TAS GeneID:6326 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA GeneID:6326 -> Biological process: GO:0042552 [myelination] evidence: ISS GeneID:6326 -> Cellular component: GO:0001518 [voltage-gated sodium channel complex] evidence: IEA GeneID:6326 -> Cellular component: GO:0005887 [integral to plasma membrane] evidence: TAS GeneID:6326 -> Cellular component: GO:0014704 [intercalated disc] evidence: IEA GeneID:6326 -> Cellular component: GO:0030315 [T-tubule] evidence: IEA GeneID:6326 -> Cellular component: GO:0030424 [axon] evidence: TAS GeneID:6326 -> Cellular component: GO:0033268 [node of Ranvier] evidence: ISS GeneID:6326 -> Cellular component: GO:0033270 [paranode region of axon] evidence: IEA
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