This genomic element is found within the pseudoautosomal region 1 (PAR1) of chromosomes X and Y, where each chromosome contains the same DNA region. It is located approximately 146 kb downstream of the SHOX (short stature homeobox) gene, and is one of several conserved elements that surround that gene. It can function as an enhancer in various tissues in transgenic zebrafish embryos. Mutations that include this element, including deletions and microduplications, are associated with Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS), and they have also been implicated in autism spectrum disorders (ASDs) and related neurodevelopmental conditions. [provided by RefSeq, Jul 2016]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CNE6-20-RE | 20 (40 μL) | 200 μL |  |
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| CNE6-20-OR | 20 (40 μL) | 200 μL |  |
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| CNE6-20-GO | 20 (40 μL) | 200 μL |  |
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| CNE6-20-GR | 20 (40 μL) | 200 μL |  |
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| CNE6-20-AQ | 20 (40 μL) | 200 μL |  |
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This genomic element is found within the pseudoautosomal region 1 (PAR1) of chromosomes X and Y, where each chromosome contains the same DNA region. It is located approximately 146 kb downstream of the SHOX (short stature homeobox) gene, and is one of several conserved elements that surround that gene. It can function as an enhancer in various tissues in transgenic zebrafish embryos. Mutations that include this element, including deletions and microduplications, are associated with Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS), and they have also been implicated in autism spectrum disorders (ASDs) and related neurodevelopmental conditions. [provided by RefSeq, Jul 2016]
Gene Symbol : CNE6
Gene Name : CNE6 enhancer downstream of SHOX
Chromosome : CHR X, Y: 0-0
Locus : Xp22.33; Yp11.3
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