ENST00000330949.3 SOX1

Information
Transcript ID
ENST00000330949.3
Genome
hg38
Position
chr13:112,067,149-112,071,706
Strand
+
CDS length
1,176
Amino acid length
392
Gene symbol
SOX1
Gene type
protein-coding
Gene description
SRY-box transcription factor 1
Gene Entrez Gene ID
6656
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
Search Word
Target data :
MGeND data only
Category :
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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
1 112,067,149 112,071,706
CDS
Exon number Type Start Stop
1 CDS 112,067,659 112,068,834
Other genome
Genome Chromosome Start End Links
hg19 chr13 112,721,463 112,726,020 Link
CDS sequence
ATGTACAGCATGATGATGGAGACCGACCTGCACTCGCCCGGCGGCGCCCAGGCCCCCACGAACCTCTCGGGCCCCGCCGGGGCGGGCGGCGGCGGGGGCGGAGGCGGGGGCGGCGGCGGCGGCGGGGGCGCCAAGGCCAACCAGGACCGGGTCAAACGGCCCATGAACGCCTTCATGGTGTGGTCCCGCGGGCAGCGGCGCAAGATGGCCCAGGAGAACCCCAAGATGCACAACTCGGAGATCAGCAAGCGCCTGGGGGCCGAGTGGAAGGTCATGTCCGAGGCCGAGAAGCGGCCGTTCATCGACGAGGCCAAGCGGCTGCGCGCGCTGCACATGAAGGAGCACCCGGATTACAAGTACCGGCCGCGCCGCAAGACCAAGACGCTGCTCAAGAAGGACAAGTACTCGCTGGCCGGCGGGCTCCTGGCGGCCGGCGCGGGTGGCGGCGGCGCGGCTGTGGCCATGGGCGTGGGCGTGGGCGTGGGCGCGGCGGCCGTGGGCCAGCGCCTGGAGAGCCCAGGCGGCGCGGCGGGCGGCGGCTACGCGCACGTCAACGGCTGGGCCAACGGCGCCTACCCCGGCTCGGTGGCGGCGGCGGCGGCGGCCGCGGCCATGATGCAGGAGGCGCAGCTGGCCTACGGGCAGCACCCGGGCGCGGGCGGCGCGCACCCGCACGCGCACCCCGCGCACCCGCACCCGCACCACCCGCACGCGCACCCGCACAACCCGCAGCCCATGCACCGCTACGACATGGGCGCGCTGCAGTACAGCCCCATCTCCAACTCGCAGGGCTACATGAGCGCGTCGCCCTCGGGCTACGGCGGCCTCCCCTACGGCGCCGCGGCCGCCGCCGCCGCCGCTGCGGGCGGCGCGCACCAGAACTCGGCCGTGGCGGCGGCGGCGGCGGCGGCGGCCGCGTCGTCGGGCGCCCTGGGCGCGCTGGGCTCTCTGGTGAAGTCGGAGCCCAGCGGCAGCCCGCCCGCCCCAGCGCACTCGCGGGCGCCGTGCCCCGGGGACCTGCGCGAGATGATCAGCATGTACTTGCCCGCCGGCGAGGGGGGCGACCCGGCGGCGGCAGCAGCGGCCGCGGCGCAGAGCCGGCTGCACTCGCTGCCGCAGCACTACCAGGGCGCGGGCGCGGGCGTGAACGGCACGGTGCCCCTGACGCACATCTAG
Amino sequence
MYSMMMETDLHSPGGAQAPTNLSGPAGAGGGGGGGGGGGGGGGAKANQDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEISKRLGAEWKVMSEAEKRPFIDEAKRLRALHMKEHPDYKYRPRRKTKTLLKKDKYSLAGGLLAAGAGGGGAAVAMGVGVGVGAAAVGQRLESPGGAAGGGYAHVNGWANGAYPGSVAAAAAAAAMMQEAQLAYGQHPGAGGAHPHAHPAHPHPHHPHAHPHNPQPMHRYDMGALQYSPISNSQGYMSASPSGYGGLPYGAAAAAAAAAGGAHQNSAVAAAAAAAAASSGALGALGSLVKSEPSGSPPAPAHSRAPCPGDLREMISMYLPAGEGGDPAAAAAAAAQSRLHSLPQHYQGAGAGVNGTVPLTHI*