The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| GBA3-20-RE | 20 (40 μL) | 200 μL |  |
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| GBA3-20-OR | 20 (40 μL) | 200 μL |  |
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| GBA3-20-GO | 20 (40 μL) | 200 μL |  |
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| GBA3-20-GR | 20 (40 μL) | 200 μL |  |
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| GBA3-20-AQ | 20 (40 μL) | 200 μL |  |
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The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Gene Symbol : GBA3
Gene Name : Glucosylceramidase beta 3 (gene/pseudogene)
Chromosome : CHR 4: 226,929,13-228,195,74
Locus : 4p15.2
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