AutismKB 2.0

Evidence Details for SCN1B


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Basic Information Top
Gene Symbol:SCN1B ( GEFSP1 )
Gene Full Name: sodium channel, voltage-gated, type I, beta
Band: 19q13.11
Quick LinksEntrez ID:6324; OMIM: 600235; Uniprot ID:SCN1B_HUMAN; ENSEMBL ID: ENSG00000105711; HGNC ID: 10586
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SCN1B|6324|nucleotide
ATGGGGAGGCTGCTGGCCTTAGTGGTCGGCGCGGCACTGGTGTCCTCAGCCTGCGGGGGCTGCGTGGAGGTGGACTCGGAGACCGAGGCCGTGTATGGGATGACC
TTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGATC
CTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGATCTGTCT
ATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAG
AAGATCCACATTGAGGTAGTGGACAAAGCCAACAGAGACATGGCATCCATCGTGTCTGAGATCATGATGTATGTGCTCATTGTGGTGTTGACCATATGGCTCGTG
GCAGAGATGATTTACTGCTACAAGAAGATCGCTGCCGCCACGGAGACTGCTGCACAGGAGAATGCCTCGGAATACCTGGCCATCACCTCTGAAAGCAAAGAGAAC
TGCACGGGCGTCCAGGTGGCCGAATAG




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>SCN1B|6324|protein
MGRLLALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKRRSETNAETFTEWTFRQKGTEEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLS
IFITNVTYNHSGDYECHVYRLLFFENYEHNTSVVKKIHIEVVDKANRDMASIVSEIMMYVLIVVLTIWLVAEMIYCYKKIAAATETAAQENASEYLAITSESKEN
CTGVQVAE


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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) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top