1 copy: 2q telomere|3 copies: 2q telomere |
- 40
Haplo
Score - 40
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37470
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
review of regions in nstd45
Macina et al (1994) characterized the sequence of the 2q telomere by cloning the terminal 240 kb in two overlapping yeast artificial-chromosomes (YACs). The 2q telomere contains a region of low copy subtelomeric repeats within the distal region 50 kb to the telomere, a segment of DNA duplicated on distal 8p23 100 kb from the telomere and a region of single copy DNA 230 kb from the 2q telomere. RecA-assisted restriction endonuclease (RARE) site-specific cleavage was utilized to show a potential 55 kb larger sized polymorphism in one of eleven individuals studied.
Haploinsufficiency:
Dosage Sensitivity Unlikely
(40)
Triplosensitivity:
Dosage Sensitivity Unlikely
(40)
Last Evaluated:
04/24/2014
Haploinsufficiency (HI) Score Details
HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely
(Disclaimer)
HI Evidence Comments:
Macina et al (1994) characterized the sequence of the 2q telomere by cloning the terminal 240 kb in two overlapping yeast artificial-chromosomes (YACs). The 2q telomere contains a region of low copy subtelomeric repeats within the distal region 50 kb to the telomere, a segment of DNA duplicated on distal 8p23 100 kb from the telomere and a region of single copy DNA 230 kb from the 2q telomere. RecA-assisted restriction endonuclease (RARE) site-specific cleavage was utilized to show a potential 55 kb larger sized polymorphism in one of eleven individuals studied.
Triplosensitivity (TS) Score Details
TS Score:
40
TS Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
TS Evidence Comments:
Macina et al (1994) characterized the sequence of the 2q telomere by cloning the terminal 240 kb in two overlapping yeast artificial-chromosomes (YACs). The 2q telomere contains a region of low copy subtelomeric repeats within the distal region 50 kb to the telomere, a segment of DNA duplicated on distal 8p23 100 kb from the telomere and a region of single copy DNA 230 kb from the 2q telomere. RecA-assisted restriction endonuclease (RARE) site-specific cleavage was utilized to show a potential 55 kb larger sized polymorphism in one of eleven individuals studied.
Genomic View
Select assembly:
(NC_000002.11)
()