AutismKB 2.0

Evidence Details for SCN3A


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Basic Information Top
Gene Symbol:SCN3A ( KIAA1356,NAC3,Nav1.3 )
Gene Full Name: sodium channel, voltage-gated, type III, alpha subunit
Band: 2q24.3
Quick LinksEntrez ID:6328; OMIM: 182391; Uniprot ID:SCN3A_HUMAN; ENSEMBL ID: ENSG00000153253; HGNC ID: 10590
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SCN3A|6328|nucleotide
ATGGCACAGGCACTGTTGGTACCCCCAGGACCTGAAAGCTTCCGCCTTTTTACTAGAGAATCTCTTGCTGCTATCGAAAAACGTGCTGCAGAAGAGAAAGCCAAG
AAGCCCAAAAAGGAACAAGATAATGATGATGAGAACAAACCAAAGCCAAATAGTGACTTGGAAGCTGGAAAGAACCTTCCATTTATTTATGGAGACATTCCTCCA
GAGATGGTGTCAGAGCCCCTGGAGGACCTGGATCCCTACTATATCAATAAGAAAACTTTTATAGTAATGAATAAAGGAAAGGCAATTTTCCGATTCAGTGCCACC
TCTGCCTTGTATATTTTAACTCCACTAAACCCTGTTAGGAAAATTGCTATCAAGATTTTGGTACATTCTTTATTCAGCATGCTTATCATGTGCACTATTTTGACC
AACTGTGTATTTATGACCTTGAGCAACCCTCCTGACTGGACAAAGAATGTAGAGTACACATTCACTGGAATCTATACCTTTGAGTCACTTATAAAAATCTTGGCA
AGAGGGTTTTGCTTAGAAGATTTTACGTTTCTTCGTGATCCATGGAACTGGCTGGATTTCAGTGTCATTGTGATGGCATATGTGACAGAGTTTGTGGACCTGGGC
AATGTCTCAGCGTTGAGAACATTCAGAGTTCTCCGAGCACTGAAAACAATTTCAGTCATTCCAGGTTTAAAGACCATTGTGGGGGCCCTGATCCAGTCGGTAAAG
AAGCTTTCTGATGTGATGATCCTGACTGTGTTCTGTCTGAGCGTGTTTGCTCTCATTGGGCTGCAGCTGTTCATGGGCAATCTGAGGAATAAATGTTTGCAGTGG
CCCCCAAGCGATTCTGCTTTTGAAACCAACACCACTTCCTACTTTAATGGCACAATGGATTCAAATGGGACATTTGTTAATGTAACAATGAGCACATTTAACTGG
AAGGATTACATTGGAGATGACAGTCACTTTTATGTTTTGGATGGGCAAAAAGACCCTTTACTCTGTGGAAATGGCTCAGATGCAGGCCAGTGTCCAGAAGGATAC
ATCTGTGTGAAGGCTGGTCGAAACCCCAACTATGGCTACACAAGCTTTGACACCTTTAGCTGGGCTTTCCTGTCTCTATTTCGACTCATGACTCAAGACTACTGG
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>SCN3A|6328|protein
MAQALLVPPGPESFRLFTRESLAAIEKRAAEEKAKKPKKEQDNDDENKPKPNSDLEAGKNLPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVMNKGKAIFRFSAT
SALYILTPLNPVRKIAIKILVHSLFSMLIMCTILTNCVFMTLSNPPDWTKNVEYTFTGIYTFESLIKILARGFCLEDFTFLRDPWNWLDFSVIVMAYVTEFVDLG
NVSALRTFRVLRALKTISVIPGLKTIVGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQWPPSDSAFETNTTSYFNGTMDSNGTFVNVTMSTFNW
KDYIGDDSHFYVLDGQKDPLLCGNGSDAGQCPEGYICVKAGRNPNYGYTSFDTFSWAFLSLFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLVNLIL
AVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAVAAASAASRDFSGIGGLGELLESSSEASKLSSKSAKEWRNRRKKRRQREHLEGNNKGERDSFPK
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top