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FRA10A


Official Full Name
fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2)
Organism
Homo sapiens
Gene ID
109280162
Background
This biological region overlaps the FRA10A associated CGG repeat 1 (FRA10AC1) gene on the q arm of chromosome 10. This region is a folate-sensitive fragile site and contains a CGG/CCG trinucleotide repeat. The repeat is found within the 5' untranslated region of some transcript variants, but is also intronic to a transcript variant. Allelic variation occurs in this region, with repeat sizes of about n=8-14, typically observed. Expansions of the repeat to copy numbers exceeding 200 have been observed, and are associated with chromosome fragility at this site. Repeat expansions are associated with CpG hypermethylation and reduced expression of the FRA10AC1 gene product. [provided by RefSeq, Dec 2016]
Synonyms
P38; GADS; GRID; GRPL; GrbX; Mona; GRB2L; GRBLG; Grf40; GRAP-2

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Cat.No. Product Name Price
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