Event ID![]() ![]() |
Disease: Mental Retardation Syndrome ( DOID![]() |
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Event Information |
Precision: A![]() |
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Chromosome Rearrangement Type: Reciprocal Translocation![]() |
Chromosome: 2, 12 |
Karyotype![]() |
Breakpoints Information: |
First Breakpoint![]() |
Location: q24.1 |
Exact position: Chr2: 156970377bp |
This breakpoint occurs in an intergenic region |
Second Breakpoint![]() |
Location: q21.31 |
Exact position: Chr12: 86468530bp |
This breakpoint occurs in intron1 of NM_013244.3. |
Junction Sequence(5'): CAATGAAGTTAGAATCTCAAATAATGTGGTCTCAAAGAAGAGAGAATTGAAGGCACAAGGTGAAAGGCACGTCCTACTTTGTACTTGTCACTTTGTAACAAGCAAAAGCA |
The Junction Sequence is Inferred![]() |
Note: Green and Blue color indicate 5' and 3' sequence according to the breakpoint. |
Experimental Method: PCR, DNA sequencing |
Reference Information |
PubMed ID: 18326688 | ||||
Authors: Chen W,Kalscheuer V,Tzschach A,Menzel C,Ullmann R,Schulz MH,Erdogan F,Li N,Kijas Z,Arkesteijn G,Pajares IL,Goetz-Sothmann M,Heinrich U,Rost I,Dufke A,Grasshoff U,Glaeser B,Vingron M,Ropers HH | ||||
Journal: Genome research |
Go to Genome Browser ( Click the image ) |
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