Table 1 of Pandaranayaka, Mol Vis 2010; 16:2891-2902.
SNP number |
Genomic location (bp) |
Location of new site in MYOC genome |
Location of new site in Mutated MYOC genome |
Splice site type |
Length of altered protein product |
Known association with disease |
---|---|---|---|---|---|---|
SNP 67 (A>G) | 4453 (Intron) | 4449 | 4449 | A | 215 | No |
SNP 12 (G>A) | 14072 (Intron) | 14075 | 14075 | A | 258 | No |
SNP 88 (C/-) | 1293 (Intron) | 1299 | 1298 | D | 214 | No |
SNP 22 (-/TTTT) | 12975 (Intron) | 12989 | 12993 | A | 225 | No |
SNP 68 (T/-) | 4445 (Intron) | 4450 | 4449 | A | 275 | No |
SNP 121 (T>C) | 16233 (Exon-3) | 16206 | 16206 | A | 337 | POAG |