Click on the name to display tables of polymorphism variant frequency in various samples.
Location: | 5’ of the LDLR | Enzyme: | D19S394 |
Sequence: | (GAAG)n at 150kb from 5' | Comments: | 17 alleles |
241: | 241 repeats |
247: | 247 repeats |
257: | 257 repeats |
Location: | 5' FR | Enzyme: | BsmI |
Sequence: | Comments: |
1: | Southern Blot: 13 kb |
2: | Southern Blot: 18 kb |
Location: | 5' FR | Enzyme: | RsaI |
Sequence: | Comments: |
1: | Southern Blot: 1.8 kb |
2: | Southern Blot: 3.2 kb |
Location: | 5' FR | Enzyme: | SacI/KpnI |
Sequence: | Comments: |
1: | Southern Blot: 2.0 kb |
2: | Southern Blot: 2.05 kb |
Location: | 5' FR | Enzyme: | BcII |
Sequence: | Comments: |
1: | Southern Blot: 5.5 kb |
2: | Southern Blot: 8.7 kb |
Location: | Exon 2 | Enzyme: | SfnaI |
Sequence: | C>T at 81 | Comments: |
1: | Base: C |
2: | Base: T |
Location: | Intron 3 | Enzyme: | ApaLI |
Sequence: | Comments: | codigest with BamHI |
1: | Southern Blot: 4.2 kb |
2: | Southern Blot: 4.5 kb |
Location: | Exon 4 | Enzyme: | MaeIII |
Sequence: | G>T at 324 | Comments: |
1: | Base: G |
2: | Base: T |
Location: | Intron 4 | Enzyme: | TaqI |
Sequence: | Comments: |
1: | Southern Blot: 0.6 kb |
2: | Southern Blot: 1.7 kb |
Location: | Intron 6 | Enzyme: | SphI |
Sequence: | Comments: |
1: | Southern Blot: 9.7/5.3/3.2 kb |
2: | Southern Blot: 9.7/5.3/3.7 kb |
Location: | Exon 7 | Enzyme: | Artificial CfoI |
Sequence: | C>T at 1056 | Comments: |
1: | Base: C |
2: | Base: T |
Location: | Intron 7 | Enzyme: | SmaI |
Sequence: | G>C at 1060+10 | Comments: |
1: | Base: G |
2: | Base: C |
Location: | Exon 8 | Enzyme: | StuI |
Sequence: | A>G at 1170 | Comments: | A370T |
1: | Base: A |
2: | Base: G |
Location: | Intron 9 | Enzyme: | HhaI |
Sequence: | C>T at 1359-29 | Comments: |
1: | Base: C |
2: | Base: T |
Location: | Exon 10 | Enzyme: | G>A |
Sequence: | G>A at 1413 | Comments: |
1: | Base: G |
2: | Base: A |
Location: | Exon 11 | Enzyme: | artificial StuI |
Sequence: | C>T at 1617 | Comments: |
1: | Base: C |
2: | Base: T |
Location: | Exon 12 | Enzyme: | HincII |
Sequence: | T>C at 1773 | Comments: |
1: | Base: T |
2: | Base: C |
3: | Base: -/C |
4: | Base: +/C |
5: | Base: +/T |
Location: | Exon 12 | Enzyme: | C>T |
Sequence: | C>T at 1725 | Comments: |
1: | Base: C |
2: | Base: T |
Location: | Intron 12 | Enzyme: | BstEII |
Sequence: | Comments: | codigest EcoRI |
1: | Southern Blot: 22/11/5/4 kb |
2: | Southern Blot: 33/5/4 kb |
Location: | Exon 13 | Enzyme: | AvaII |
Sequence: | C>T at 1959 | Comments: | codigest XbaI |
1: | Base: T |
2: | Base: C |
Location: | Exon 14 | Enzyme: | C>A |
Sequence: | C>A at 2029 | Comments: |
1: | Base: C |
2: | Base: A |
Location: | Exon 15 | Enzyme: | MspI |
Sequence: | G>A at 2231 | Comments: |
1: | Base: G |
2: | Base: A |
Location: | Intron 15 | Enzyme: | SpeI |
Sequence: | Comments: | codigest BamHI |
1: | Southern Blot: 13;6.6 kb |
2: | Southern Blot: 21;9.4 kb |
Location: | Intron 15 | Enzyme: | ApaLI |
Sequence: | Comments: |
1: | Southern Blot: 6.6/3.8/2.8/1.7 kb |
2: | Southern Blot: 9.4/3.8/1.7 kb |
Location: | Intron 15 | Enzyme: | PvuII |
Sequence: | A>G at 3’end | Comments: | (-27 in the right arm of the 5’Alu sequence of a cluster of 2 tandem Alu sequences) |
1: | Southern Blot: 16/4.8/2.6 kb Base: A |
2: | Southern Blot: 19/4.8 kb Base: G |
Location: | Exon 18 | Enzyme: | MspI |
Sequence: | G>A at 2635 (55bp into UTR) | Comments: | also HaeIII |
1: | Base: G |
2: | Base: A |
Location: | Exon 18 | Enzyme: | NcoI |
Sequence: | Comments: |
1: | Southern Blot: 9/7/3.4 kb |
2: | Southern Blot: 13/9/7 kb |
Location: | Exon 18 | Enzyme: | HVR-TA |
Sequence: | (TA)n at 4780 | Comments: |
106: | 106 repeats |
108: | 108 repeats |
112: | 112 repeats |
Location: | 3' FR | Enzyme: | ApaLI |
Sequence: | Comments: | codigest BamHI |
1: | Southern Blot: 13 kb |
2: | Southern Blot: 17 kb |
Location: | 3' FR | Enzyme: | AfIIII |
Sequence: | Comments: |
1: | |
2: |
Location: | 3' FR | Enzyme: | ApaLI |
Sequence: | Comments: |
1: | Southern Blot: 26 kb |
2: | Southern Blot: kb |
Location: | 3' FR | Enzyme: | PstI |
Sequence: | Comments: |
1: | Southern Blot: 2.85 kb |
2: | Southern Blot: 3.4 kb |
Location: | 3' FR | Enzyme: | D19S221 |
Sequence: | (CA)n at 1300kb from LDLR | Comments: | 12 alleles |