Prom-Luc†
|
pGL4.10[luc2] |
NAGS
promoter |
chr17:42,081,288-42,082,038 |
Prom-Ex1-Luc |
pGL4.10[luc2] |
NAGS promoter, exon 1
coding sequence |
chr17:42,081,288-42,082,457 |
Prom-Ex1-Int1-Luc |
pGL4.10[luc2] |
NAGS promoter,
exon 1 coding sequence, intron 1 |
chr17:42,081,288-42,083,010 |
c.426+326G>A
|
Prom-Ex1-Int1-Luc
|
NAGS promoter, exon 1 coding sequence, mutated intron 1
|
chr17:42,081,288-42,083,010
chr17:42,082,783G>A¶
|
c.427-218A>C
|
Prom-Ex1-Int1-Luc
|
NAGS promoter, exon 1 coding sequence and mutated intron 1
|
chr17:42,081,288-42,083,010
chr17:42,082,787A>C¶
|
minP‡
|
pGL4.23[luc2/minP] |
None |
None |
minP_E |
pGL4.23[luc2/minP] |
NAGS -3kb enhancer |
chr17:42,078,635-42,079,129 |
c.-3098C>T
|
minP_E
|
Mutated NAGS -3kb enhancer
|
chr17:42,078,635-42,079,129
chr:42,078,934C>T#
|
c.-3065A>T
|
minP_E
|
Mutated NAGS -3kb enhancer
|
chr17:42,078,635-42,079,129
chr:42,078,967A>T#
|