UBA1 (NM_003334.4) sequence variants
(A1S9, A1ST, GXP1, UBE1, A1S9T, AMCX1, POC20, SMAX2, UBA1A, UBE1X, CFAP124)

Editor(s): David BECK   

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    16 sequence variant(s) among 16  
 
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Flanking region
UTR region
Exonic region
Intronic region
 
5' flanking X
No variants
X 5' UTR
No variants
Exon 1 X
No variants
Intron 1X
No variants
Exon 2 X
No variants
Intron 2X
  c.118-9_118-2del  c.118-3T>A  c.118-2A>G
  c.118-2A>T
Exon 3 X
  p.G40_K43del  G40A  p.M41V
  p.M41L  M41L  p.M41T
  S56F
Intron 3X
No variants
Exon 4 X
No variants
Intron 4X
No variants
Exon 5 X
No variants
Intron 5X
No variants
Exon 6 X
No variants
Intron 6X
No variants
Exon 7 X
No variants
Intron 7X
No variants
Exon 8 X
  T233I
Intron 8X
No variants
Exon 9 X
No variants
Intron 9X
No variants
Exon 10 X
No variants
Intron 10X
No variants
Exon 11 X
No variants
Intron 11X
No variants
Exon 12 X
No variants
Intron 12X
No variants
Exon 13 X
No variants
Intron 13X
No variants
Exon 14 X
  G477A
Intron 14X
No variants
Exon 15 X
No variants
Intron 15X
No variants
Exon 16 X
  N606I  S621C
Intron 16X
No variants
Exon 17 X
No variants
Intron 17X
No variants
Exon 18 X
No variants
Intron 18X
No variants
Exon 19 X
No variants
Intron 19X
No variants
Exon 20 X
No variants
Intron 20X
No variants
Exon 21 X
No variants
Intron 21X
No variants
Exon 22 X
No variants
Intron 22X
No variants
Exon 23 X
  I894S
Intron 23X
No variants
Exon 24 X
No variants
Intron 24X
No variants
Exon 25 X
No variants
Intron 25X
No variants
Exon 26 X
No variants
3' UTR X
No variants
3' flanking X
No variants