BTBD9 (Entrez ID: 114781)

Entrez Gene ID	114781
Official Gene Symbol	BTBD9 (GeneCards)
Full name	BTB domain containing 9
Location	6p21.2
Other ids	Vega : OTTHUMG00000014634 MIM : 611237 HGNC : HGNC:21228 Ensembl : ENSG00000183826
Other names	dJ322I12.1
Summary	This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]

Variants

Found 8 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
9019	114781	BTBD9	6	38386996	38386996	Asymptomatic	HiSeq 2000
9339	114781	BTBD9	6	38638233	38638233	Asymptomatic	HiSeq 2000 HiSeq X Ten
9488	114781	BTBD9	6	38310132	38310132	Asymptomatic	HiSeq 2000 HiSeq X Ten
9824	114781	BTBD9	6	38626940	38626940	Asymptomatic	HiSeq 2000 HiSeq X Ten
10281	114781	BTBD9	6	38469232	38469232	Xeroderma Pigmentosum	HiSeq 2000 HiSeq X Ten
23132	114781	BTBD9	6	38626752	38626752	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning
26061	114781	BTBD9	6	38385236	38385236	Asymptomatic	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning
29393	114781	BTBD9	6	38561774	38561774	Autism Spectrum Disorders	HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning MiSeq