SNTG1 (Entrez ID: 54212)

Entrez Gene ID	54212
Official Gene Symbol	SNTG1 (GeneCards)
Full name	syntrophin gamma 1
Location	8q11.21
Other ids	Vega : OTTHUMG00000164257 MIM : 608714 HGNC : HGNC:13740 Ensembl : ENSG00000147481
Other names	SYN4, G1SYN
Summary	The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

Variants

Found 23 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
11659	54212	SNTG1	8	51810529	51810529	Asymptomatic	HiSeq X Ten
11663	54212	SNTG1	8	51077753	51077753	Asymptomatic	HiSeq X Ten
11706	54212	SNTG1	8	51241574	51241574	Asymptomatic	HiSeq X Ten HiSeq 2000
11742	54212	SNTG1	8	52219235	52219235	Asymptomatic	HiSeq X Ten HiSeq 2000
11847	54212	SNTG1	8	52113682	52113682	Asymptomatic	HiSeq X Ten HiSeq 2000
11982	54212	SNTG1	8	51411156	51411156	Asymptomatic	HiSeq X Ten HiSeq 2000
12062	54212	SNTG1	8	51407354	51407354	Asymptomatic	HiSeq X Ten HiSeq 2000
12096	54212	SNTG1	8	51562748	51562748		HiSeq X Ten HiSeq 2000
12227	54212	SNTG1	8	51874309	51874309	Asymptomatic	HiSeq X Ten HiSeq 2000
12292	54212	SNTG1	8	51293747	51293747	Asymptomatic	HiSeq X Ten HiSeq 2000
12293	54212	SNTG1	8	51636628	51636628	Asymptomatic	HiSeq X Ten HiSeq 2000
12294	54212	SNTG1	8	52189656	52189656	Asymptomatic	HiSeq X Ten HiSeq 2000
12341	54212	SNTG1	8	51119627	51119627	Asymptomatic	HiSeq X Ten HiSeq 2000
12357	54212	SNTG1	8	50913198	50913198	Asymptomatic	HiSeq X Ten HiSeq 2000
12358	54212	SNTG1	8	51071182	51071182	Asymptomatic	HiSeq X Ten HiSeq 2000
12564	54212	SNTG1	8	51839123	51839123	Asymptomatic	HiSeq X Ten HiSeq 2000
12623	54212	SNTG1	8	51128621	51128621	Cockayne syndrome	HiSeq X Ten HiSeq 2000
12734	54212	SNTG1	8	50933890	50933890	Cockayne syndrome	HiSeq X Ten HiSeq 2000
12735	54212	SNTG1	8	51070182	51070182	Cockayne syndrome	HiSeq X Ten HiSeq 2000
12894	54212	SNTG1	8	50930538	50930538	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
26571	54212	SNTG1	8	51117863	51117863	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
26654	54212	SNTG1	8	51550647	51550647	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
34435	54212	SNTG1	8	51681819	51681819	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning Whole Genome Sequencing Ion Torrent PGM Sequencing