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Home Public data LGFUS Public Data PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa Patient screen Tanackovic et al. permalink
Patient screen Tanackovic et al. ⚙
Transcript map : BCL2L12 CTL W1 13167
Exon
Length: 926
Transcript: ENST00000246784
Exon
Length: 115
Transcript: ENST00000246784
Exon
Length: 143
Transcript: ENST00000246784
Exon
Length: 87
Transcript: ENST00000246784
Exon
Length: 92
Transcript: ENST00000246784
Exon
Length: 273
Transcript: ENST00000246784
Exon
Length: 218
Transcript: ENST00000246784
Intron
Length: 617
Transcript: ENST00000246784
Intron
Length: 219
Transcript: ENST00000246784
Intron
Length: 1689
Transcript: ENST00000246784
Intron
Length: 86
Transcript: ENST00000246784
Intron
Length: 1100
Transcript: ENST00000246784
Intron
Length: 3209
Transcript: ENST00000246784
Reaction
Expected peak: 330
33.5M
BCL2L12-3
BCL2L12-4
Reaction
Expected peak: 330
33.5M
BCL2L12-3
BCL2L12-4
Reaction
Expected peak: 330
33.5M
BCL2L12-3
BCL2L12-4
Reaction
Expected peak: 330
33.5M
BCL2L12-3
BCL2L12-4
Exon
Length: 926
Transcript: ENST00000246784
Exon
Length: 115
Transcript: ENST00000246784
Exon
Length: 143
Transcript: ENST00000246784
Exon
Length: 87
Transcript: ENST00000246784
Exon
Length: 92
Transcript: ENST00000246784
Exon
Length: 273
Transcript: ENST00000246784
Exon
Length: 218
Transcript: ENST00000246784
Intron
Length: 617
Transcript: ENST00000246784
Intron
Length: 219
Transcript: ENST00000246784
Intron
Length: 1689
Transcript: ENST00000246784
Intron
Length: 86
Transcript: ENST00000246784
Intron
Length: 1100
Transcript: ENST00000246784
Intron
Length: 3209
Transcript: ENST00000246784
Reaction
Expected peak: 330
33.5M
BCL2L12-3
BCL2L12-4
Reaction
Expected peak: 330
33.5M
BCL2L12-3
BCL2L12-4
Reaction
Expected peak: 330
33.5M
BCL2L12-3
BCL2L12-4
Reaction
Expected peak: 330
33.5M
BCL2L12-3
BCL2L12-4
Exon
Length: 244
Transcript: ENST00000246785
Exon
Length: 115
Transcript: ENST00000246785
Exon
Length: 87
Transcript: ENST00000246785
Exon
Length: 85
Transcript: ENST00000246785
Intron
Length: 617
Transcript: ENST00000246785
Intron
Length: 2051
Transcript: ENST00000246785
Intron
Length: 86
Transcript: ENST00000246785
Reaction
Expected peak: 187
8M
BCL2L12-3
BCL2L12-4
Reaction
Expected peak: 187
8M
BCL2L12-3
BCL2L12-4
Reaction
Expected peak: 187
8M
BCL2L12-3
BCL2L12-4
Reaction
Expected peak: 187
8M
BCL2L12-3
BCL2L12-4
Exon
Length: 244
Transcript: ENST00000246785
Exon
Length: 115
Transcript: ENST00000246785
Exon
Length: 87
Transcript: ENST00000246785
Exon
Length: 85
Transcript: ENST00000246785
Intron
Length: 617
Transcript: ENST00000246785
Intron
Length: 2051
Transcript: ENST00000246785
Intron
Length: 86
Transcript: ENST00000246785
Reaction
Expected peak: 187
8M
BCL2L12-3
BCL2L12-4
Reaction
Expected peak: 187
8M
BCL2L12-3
BCL2L12-4
Reaction
Expected peak: 187
8M
BCL2L12-3
BCL2L12-4
Reaction
Expected peak: 187
8M
BCL2L12-3
BCL2L12-4
BCL2L12-3
TCCTAGCTGCCTTCCTTAG
BCL2L12-4
GTATGGCTTCCTTCTCTGTC

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