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2024-04-23 21:15:58, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001040143 8571 bp mRNA linear PRI 05-MAY-2013
DEFINITION Homo sapiens sodium channel, voltage-gated, type II, alpha subunit
(SCN2A), transcript variant 3, mRNA.
ACCESSION NM_001040143
VERSION NM_001040143.1 GI:93141213
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 8571)
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 8571)
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 8571)
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 8571)
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 8571)
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 8571)
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 8571)
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 8571)
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 8571)
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 8571)
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 M94055.1, AF327228.1,
BP311214.1, DA232976.1, AC011303.9 and BU729783.1.
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 (3) contains an alternate in-frame
exon in the 5' coding region, compared to variant 1. The encoded
isoform (2) contains one amino acid substitution relative to
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##
RNAseq introns :: mixed/partial sample support ERS025081, ERS025082
[ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-656 M94055.1 55-710
657-748 AF327228.1 1600-1691
749-1621 M94055.1 803-1675
1622-1807 BP311214.1 319-504
1808-4024 M94055.1 1862-4078
4025-4435 DA232976.1 154-564
4436-5352 M94055.1 4490-5406
5353-8019 AC011303.9 117675-120341
8020-8571 BU729783.1 1-552 c
FEATURES Location/Qualifiers
source 1..8571
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q24.3"
gene 1..8571
/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..318
/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 17
/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 28..30
/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 52..6069
/gene="SCN2A"
/gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI;
HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
/note="isoform 2 is encoded by transcript variant 3;
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 2"
/protein_id="NP_001035233.1"
/db_xref="GI:93141214"
/db_xref="CCDS:CCDS33313.1"
/db_xref="GeneID:6326"
/db_xref="HGNC:10588"
/db_xref="MIM:182390"
/translation="
MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQERKDEDDENGPKPNSDLEAGKSLPFIYGDIPPEMVSVPLEDLDPYYINKKTFIVLNKGKAISRFSATPALYILTPFNPIRKLAIKILVHSLFNMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKILARGFCLEDFTFLRDPWNWLDFTVITFAYVTEFVNLGNVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQWPPDNSSFEINITSFFNNSLDGNGTTFNRTVSIFNWDEYIEDKSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAAAAAASAESRDFSGAGGIGVFSESSSVASKLSSKSEKELKNRRKKKKQKEQSGEEEKNDRVRKSESEDSIRRKGFRFSLEGSRLTYEKRFSSPHQSLLSIRGSLFSPRRNSRASLFSFRGRAKDIGSENDFADDEHSTFEDNDSRRDSLFVPHRHGERRHSNVSQASRASRVLPILPMNGKMHSAVDCNGVVSLVGGPSTLTSAGQLLPEGTTTETEIRKRRSSSYHVSMDLLEDPTSRQRAMSIASILTNTMEELEESRQKCPPCWYKFANMCLIWDCCKPWLKVKHLVNLVVMDPFVDLAITICIVLNTLFMAMEHYPMTEQFSSVLSVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVSLSLMELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKSYKECVCKISNDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCLTVFMMVMVIGNLVVLNLFLALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDFVKRKIREFIQKAFVRKQKALDEIKPLEDLNNKKDSCISNHTTIEIGKDLNYLKDGNGTTSGIGSSVEKYVVDESDYMSFINNPSLTVTVPIAVGESDFENLNTEEFSSESDMEESKEKLNATSSSEGSTVDIGAPAEGEQPEVEPEESLEPEACFTEDCVRKFKCCQISIEEGKGKLWWNLRKTCYKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLKWVAYGFQVYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINYTTGEMFDVSVVNNYSECKALIESNQTARWKNVKVNFDNVGLGYLSLLQVATFKGWMDIMYAAVDSRNVELQPKYEDNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILICLNMVTMMVETDDQSQEMTNILYWINLVFIVLFTGECVLKLISLRYYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSGPPDCDPDKDHPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYEVWEKFDPDATQFIEFAKLSDFADALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYEPITTTLKRKQEEVSAIIIQRAYRRYLLKQKVKKVSSIYKKDKGKECDGTPIKEDTLIDKLNENSTPEKTDMTPSTTSPPSYDSVTKPEKEKFEKDKSEKEDKGKDIRESKK
"
misc_feature 382..1419
/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 424..495
/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 520..579
/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 523..>939
/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 619..675
/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 694..753
/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 802..873
/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 <1108..1323
/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 1255..1332
/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 1612..2181
/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 2272..3090
/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 2311..2385
/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 2419..2490
/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 2434..2961
/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 2515..2574
/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 2593..2652
/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 2701..2763
/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 2923..3000
/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 3040..3705
/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 3619..4563
/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 3661..3732
/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 3772..3849
/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 3781..4467
/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 3868..3933
/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 3946..4011
/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 4069..4152
/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 4390..4470
/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 4588..5484
/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 4630..4701
/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 4735..4806
/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 4744..5223
/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 4825..4896
/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 4927..4992
/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 5038..5106
/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 5305..5379
/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 75
/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 107
/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 133
/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 137
/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 151
/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 189
/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 283
/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 288
/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 303
/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 306
/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 319..437
/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 355
/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 362
/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 412
/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 438..527
/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 502
/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 528..656
/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 570
/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 586
/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 613
/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 650
/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 657..748
/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 749..1021
/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 805
/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 831
/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 839
/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 874
/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 891
/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 930
/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 948
/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 967
/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 1003
/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 1011
/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 1022..1085
/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 1086..1227
/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 1087
/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 1092
/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 1137
/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 1146
/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 1205
/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 1228..1434
/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 1320
/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 1357
/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 1406
/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 1427
/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 1435..1722
/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 1437
/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 1440
/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 1441..1442
/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 1449
/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 1467
/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 1492
/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 1508
/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 1530
/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 1535
/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 1576
/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 1578
/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 1587
/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 1622
/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 1629
/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 1656
/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 1665
/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 1723..2067
/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 1763
/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 1806
/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 1810
/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 1836
/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 1892
/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 1893
/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 1917
/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 1940
/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 1992
/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 2004
/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 2010
/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 2022
/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 2027
/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 2043
/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 2068..2200
/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 2074
/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 2085
/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 2101
/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 2102
/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 2134
/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 2142
/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 2143
/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 2154
/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 2201..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 2403
/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 2431
/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 2440..2613
/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 2440
/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 2614..2970
/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 2718
/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 2725
/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 2757
/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 2774
/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 2789
/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 2817
/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 2877
/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 2910
/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 2971..3450
/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 2974
/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 3006
/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 3050
/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 3058
/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 3093
/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 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:376774884"
variation 3174
/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 3184
/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 3194
/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 3234
/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 3246
/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 3261
/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 3264
/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 3292
/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 3381
/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 3434
/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 3451..3571
/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 3462
/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 3504
/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 3507
/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 3508
/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 3536
/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 3572..3726
/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 3580
/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 3602
/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 3630
/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 3645
/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 3681
/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 3682
/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 3691
/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 3695
/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 3727..3900
/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 3820..3821
/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 3891
/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 3901..4023
/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 4005
/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 4006
/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 4007
/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 4024..4305
/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 4039
/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 4059
/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 4161
/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 4185
/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 4265
/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 4305
/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 4306..4359
/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 4308
/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 4311
/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 4338
/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 4360..4497
/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 4465
/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 4470
/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 4498..4602
/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 4590
/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 4603..4873
/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 4616
/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 4647
/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 4681..5096
/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 4681..5073
/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 4738
/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 4770
/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 4799
/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 4826
/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 4874..8555
/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 4887
/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 4893
/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 4911
/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 4920
/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 4965
/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 4977
/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 5040
/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 5073
/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 5170
/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 5172
/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 5206
/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 5259
/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 5268
/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 5280
/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 5358
/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 5370
/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 5377
/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 5415
/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 5448
/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 5484
/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 5497
/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 5519
/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 5556
/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 5568
/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 5592
/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 5612..6441
/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 5619
/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 5676
/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 5680
/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 5702
/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 5750
/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 5755
/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 5769
/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 5779
/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 5782
/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 5784
/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 5803
/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 5804
/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 5808
/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 5824
/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 5858
/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 5901..6001
/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 5901
/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 5948
/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 5961
/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 5970
/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 5982
/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 6099..6241
/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 6103
/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 6116
/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 6228
/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 6262
/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 6321
/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 6445
/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 6486
/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 6626
/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 6760
/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 6922
/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 7050
/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 7125
/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 7301
/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 7376..7569
/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 7390..7569
/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 7402
/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 7467
/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 7543
/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 7576
/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 7776
/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 7782
/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 7806
/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 7822
/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 7827
/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 7917
/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 7920..8096
/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 8047
/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 8068
/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 8267..8272
/gene="SCN2A"
/gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI;
HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
variation 8291
/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 8298
/gene="SCN2A"
/gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI;
HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
variation 8374
/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 8427
/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 8433
/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 8491
/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 8492
/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 8509
/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 8531..8536
/gene="SCN2A"
/gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI;
HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
variation 8549
/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 8555
/gene="SCN2A"
/gene_synonym="BFIC3; BFIS3; BFNIS; EIEE11; HBA; HBSCI;
HBSCII; Na(v)1.2; NAC2; Nav1.2; SCN2A1; SCN2A2"
ORIGIN
cactttcttatgcaaggagctaaacagtgattaaaggagcaggatgaaaagatggcacagtcagtgctggtaccgccaggacctgacagcttccgcttctttaccagggaatcccttgctgctattgaacaacgcattgcagaagagaaagctaagagacccaaacaggaacgcaaggatgaggatgatgaaaatggcccaaagccaaacagtgacttggaagcaggaaaatctcttccatttatttatggagacattcctccagagatggtgtcagtgcccctggaggatctggacccctactatatcaataagaaaacgtttatagtattgaataaagggaaagcaatctctcgattcagtgccacccctgccctttacattttaactcccttcaaccctattagaaaattagctattaagattttggtacattctttattcaatatgctcattatgtgcacgattcttaccaactgtgtatttatgaccatgagtaaccctccagactggacaaagaatgtggagtatacctttacaggaatttatacttttgaatcacttattaaaatacttgcaaggggcttttgtttagaagatttcacatttttacgggatccatggaattggttggatttcacagtcattacttttgcgtatgtaacagaatttgtaaacctaggcaatgtttcagctcttcgaactttcagagtcttgagagctttgaaaactatttctgtaattccaggcctgaagaccattgtgggggccctgatccagtcagtgaagaagctttctgatgtcatgatcttgactgtgttctgtctaagcgtgtttgcgctaataggattgcagttgttcatgggcaacctacgaaataaatgtttgcaatggcctccagataattcttcctttgaaataaatatcacttccttctttaacaattcattggatgggaatggtactactttcaataggacagtgagcatatttaactgggatgaatatattgaggataaaagtcacttttattttttagaggggcaaaatgatgctctgctttgtggcaacagctcagatgcaggccagtgtcctgaaggatacatctgtgtgaaggctggtagaaaccccaactatggctacacgagctttgacacctttagttgggcctttttgtccttatttcgtctcatgactcaagacttctgggaaaacctttatcaactgacactacgtgctgctgggaaaacgtacatgatattttttgtgctggtcattttcttgggctcattctatctaataaatttgatcttggctgtggtggccatggcctatgaggaacagaatcaggccacattggaagaggctgaacagaaggaagctgaatttcagcagatgctcgaacagttgaaaaagcaacaagaagaagctcaggcggcagctgcagccgcatctgctgaatcaagagacttcagtggtgctggtgggataggagttttttcagagagttcttcagtagcatctaagttgagctccaaaagtgaaaaagagctgaaaaacagaagaaagaaaaagaaacagaaagaacagtctggagaagaagagaaaaatgacagagtccgaaaatcggaatctgaagacagcataagaagaaaaggtttccgtttttccttggaaggaagtaggctgacatatgaaaagagattttcttctccacaccagtccttactgagcatccgtggctcccttttctctccaagacgcaacagtagggcgagccttttcagcttcagaggtcgagcaaaggacattggctctgagaatgactttgctgatgatgagcacagcacctttgaggacaatgacagccgaagagactctctgttcgtgccgcacagacatggagaacggcgccacagcaatgtcagccaggccagccgtgcctccagggtgctccccatcctgcccatgaatgggaagatgcatagcgctgtggactgcaatggtgtggtctccctggtcgggggcccttctaccctcacatctgctgggcagctcctaccagagggcacaactactgaaacagaaataagaaagagacggtccagttcttatcatgtttccatggatttattggaagatcctacatcaaggcaaagagcaatgagtatagccagtattttgaccaacaccatggaagaacttgaagaatccagacagaaatgcccaccatgctggtataaatttgctaatatgtgtttgatttgggactgttgtaaaccatggttaaaggtgaaacaccttgtcaacctggttgtaatggacccatttgttgacctggccatcaccatctgcattgtcttaaatacactcttcatggctatggagcactatcccatgacggagcagttcagcagtgtactgtctgttggaaacctggtcttcacagggatcttcacagcagaaatgtttctcaagataattgccatggatccatattattactttcaagaaggctggaatatttttgatggttttattgtgagccttagtttaatggaacttggtttggcaaatgtggaaggattgtcagttctccgatcattccggctgctccgagttttcaagttggcaaaatcttggccaactctaaatatgctaattaagatcattggcaattctgtgggggctctaggaaacctcaccttggtattggccatcatcgtcttcatttttgctgtggtcggcatgcagctctttggtaagagctacaaagaatgtgtctgcaagatttccaatgattgtgaactcccacgctggcacatgcatgactttttccactccttcctgatcgtgttccgcgtgctgtgtggagagtggatagagaccatgtgggactgtatggaggtcgctggccaaaccatgtgccttactgtcttcatgatggtcatggtgattggaaatctagtggttctgaacctcttcttggccttgcttttgagttccttcagttctgacaatcttgctgccactgatgatgataacgaaatgaataatctccagattgctgtgggaaggatgcagaaaggaatcgattttgttaaaagaaaaatacgtgaatttattcagaaagcctttgttaggaagcagaaagctttagatgaaattaaaccgcttgaagatctaaataataaaaaagacagctgtatttccaaccataccaccatagaaataggcaaagacctcaattatctcaaagacggaaatggaactactagtggcataggcagcagtgtagaaaaatatgtcgtggatgaaagtgattacatgtcatttataaacaaccctagcctcactgtgacagtaccaattgctgttggagaatctgactttgaaaatttaaatactgaagaattcagcagcgagtcagatatggaggaaagcaaagagaagctaaatgcaactagttcatctgaaggcagcacggttgatattggagctcccgccgagggagaacagcctgaggttgaacctgaggaatcccttgaacctgaagcctgttttacagaagactgtgtacggaagttcaagtgttgtcagataagcatagaagaaggcaaagggaaactctggtggaatttgaggaaaacatgctataagatagtggagcacaattggttcgaaaccttcattgtcttcatgattctgctgagcagtggggctctggcctttgaagatatatacattgagcagcgaaaaaccattaagaccatgttagaatatgctgacaaggttttcacttacatattcattctggaaatgctgctaaagtgggttgcatatggttttcaagtgtattttaccaatgcctggtgctggctagacttcctgattgttgatgtctcactggttagcttaactgcaaatgccttgggttactcagaacttggtgccatcaaatccctcagaacactaagagctctgaggccactgagagctttgtcccggtttgaaggaatgagggttgttgtaaatgctcttttaggagccattccatctatcatgaatgtacttctggtttgtctgatcttttggctaatattcagtatcatgggagtgaatctctttgctggcaagttttaccattgtattaattacaccactggagagatgtttgatgtaagcgtggtcaacaactacagtgagtgcaaagctctcattgagagcaatcaaactgccaggtggaaaaatgtgaaagtaaactttgataacgtaggacttggatatctgtctctacttcaagtagccacgtttaagggatggatggatattatgtatgcagctgttgattcacgaaatgtagaattacaacccaagtatgaagacaacctgtacatgtatctttattttgtcatctttattatttttggttcattctttaccttgaatcttttcattggtgtcatcatagataacttcaaccaacagaaaaagaagtttggaggtcaagacatttttatgacagaagaacagaagaaatactacaatgcaatgaaaaaactgggttcaaagaaaccacaaaaacccatacctcgacctgctaacaaattccaaggaatggtctttgattttgtaaccaaacaagtctttgatatcagcatcatgatcctcatctgccttaacatggtcaccatgatggtggaaaccgatgaccagagtcaagaaatgacaaacattctgtactggattaatctggtgtttattgttctgttcactggagaatgtgtgctgaaactgatctctcttcgttactactatttcactattggatggaatatttttgattttgtggtggtcattctctccattgtaggaatgtttctggctgaactgatagaaaagtattttgtgtcccctaccctgttccgagtgatccgtcttgccaggattggccgaatcctacgtctgatcaaaggagcaaaggggatccgcacgctgct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//
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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