ENST00000596348.2 SCN1B

Information
Transcript ID
ENST00000596348.2
Genome
hg19
Position
chr19:35,522,257-35,530,826
Strand
+
CDS length
558
Amino acid length
186
Gene symbol
SCN1B
Gene type
protein-coding
Gene description
sodium voltage-gated channel beta subunit 1
Gene Entrez Gene ID
6324
Variants

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Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
1 35,522,257 35,522,684
2 35,523,432 35,523,598
3 35,524,403 35,524,643
4 35,530,021 35,530,162
5 35,530,539 35,530,610
6 35,530,701 35,530,826
CDS
Exon number Type Start Stop
2 CDS 35,523,491 35,523,598
3 CDS 35,524,403 35,524,643
4 CDS 35,530,021 35,530,162
5 CDS 35,530,539 35,530,605
Other genome
Genome Chromosome Start End Links
hg38 chr19 35,031,353 35,039,922 Link
CDS sequence
ATGACCTTCAAAATTCTTTGCATCTCCTGCAAGCGCCGCAGCGAGACCAACGCTGAGACCTTCACCGAGTGGACCTTCCGCCAGAAGGGCACTGAGGAGTTTGTCAAGATCCTGCGCTATGAGAATGAGGTGTTGCAGCTGGAGGAGGATGAGCGCTTCGAGGGCCGCGTGGTGTGGAATGGCAGCCGGGGCACCAAAGACCTGCAGGATCTGTCTATCTTCATCACCAATGTCACCTACAACCACTCGGGCGACTACGAGTGCCACGTCTACCGCCTGCTCTTCTTCGAAAACTACGAGCACAACACCAGCGTCGTCAAGAAGATCCACATTGAGGTAGTGGACAAAGCCAACAGAGACATGGCATCCATCGTGTCTGAGATCATGATGTATGTGCTCATTGTGGTGTTGACCATATGGCTCGTGGCAGAGATGATTTACTGCTACAAGAAGATCGCTGCCGCCACGGAGACTGCTGCACAGGAGAATGCCTCGGAATACCTGGCCATCACCTCTGAAAGCAAAGAGAACTGCACGGGCGTCCAGGTGGCCGAATAG
Amino sequence
MTFKILCISCKRRSETNAETFTEWTFRQKGTEEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLSIFITNVTYNHSGDYECHVYRLLFFENYEHNTSVVKKIHIEVVDKANRDMASIVSEIMMYVLIVVLTIWLVAEMIYCYKKIAAATETAAQENASEYLAITSESKENCTGVQVAE*