Gene-specific Copy Number Variation Probe-ABAT

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Catalog:	CNVFP-ABAT-00155
Classification:	Copy Number Variation
Description:	Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (ABAT). The product usually consists of a combination of reagents, which consists of a probe with a selected dye color and a hybridization reagent. We provide CNV FISH Probes with a variety of dye color combinations to meet various challenges. Probe products not only provide some classic color combinations but also provide customized probe services.
Application:	ABAT Gene-specific copy number variation probes are mainly used to detect the copy number variation related to ABAT genes. This product achieves the purpose of detection by hybridizing with the ABAT gene. Due to this design method, our probe products can detect the amplification and deletion of target genes on chromosomes through FISH.
Quantity:	20 Tests
Probe Kits Volume (µL):	40 μL
Hybridization Solution (µL):	200 μL
Turnaround Time:	7-10 Business Days
Shipping Time:	1-2 Day Expedited Shipping
Shipping Conditions:	-20℃
Storage Conditions:	Store at -20℃ and avoid light;

Gene Name	4-aminobutyrate Aminotransferase
Gene Summary [Provided by RefSeq]	4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Symbol	ABAT
Location	16p13.2
Chromosome	Chromosome16
Coordinates	This gene maps to 8768443-8878432 in GRCh37 coordinates.
Species	Human

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