Human Genetics Laboratory
Non-Coding Sequence Polymorphisms
| Location | Description | Consequence | dbSNP rs# (cluster ID) |
Reference |
|---|---|---|---|---|
| I-1 | g.197_214dup18 | NCR | 40 | |
| I-1 | c.-6+50ins18 | NCR | 38 | |
| E-1 | c.-43G>T | NCR | 40 | |
| I-1 | IVS-131T>C | NCR | 41 | |
| I-2 | IVS2+90A>G | NCR | 15 | |
| I-3 | IVS2+28C>T | NCR | 29 | |
| I-3 | IVS33C>T | NCR | 29 | |
| I-4 | IVS4+3A>G | NCR | 15 | |
| I-4 | IVS4-9A>G | NCR | 13, 14, 38, 40 | |
| I-4 | IVS4-15T>C | NCR | 41 | |
| I-6 | IVS6+16G>A | NCR | 10, 15, 29 | |
| I-6 | IVS6+39A>G | NCR | 13, 40 | |
| I-6 | IVS6+56C>T | NCR | 13 | |
| I-6 | IVS6+131C>T | NCR | 41 | |
| I-6 | IVS6-80C>A | NCR | 29 | |
| I-6 | IVS6-87A>G | NCR | 15 | |
| I-6 | IVS6-104^107del | NCR | 15, 29 | |
| I-7 | IVS7-5C>G | NCR | 1 | |
| 3'UTR | G>C | NCR | 29 | |
| 3'UTR | C>T | NCR | rs1046317 | 9 |
| 3'UTR | G>A | NCR | 9 | |
| 3'UTR | G>A | NCR | rs1802453 | 7, 9 |
| 3'UTR | T>C | NCR | rs1046319 | 9 |
| 3'UTR | A>G | NCR | rs1046320 | 9 |
| 3'UTR | G>A | NCR | 9 | |
| 3'UTR | C>A | NCR | 9 | |
| 3'UTR | G>A | NCR | rs1046322 | 9 |
| 3'UTR | A>G | NCR | rs1046325 | 9 |
| 3'UTR | G>A | NCR | 7 |
