DSCAM (Entrez ID: 1826)

Entrez Gene ID	1826
Official Gene Symbol	DSCAM (GeneCards)
Full name	DS cell adhesion molecule
Location	21q22.2
Other ids	Vega : OTTHUMG00000086732 MIM : 602523 HGNC : HGNC:3039 Ensembl : ENSG00000171587
Other names	CHD2, CHD2-42, CHD2-52
Summary	This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]

Variants

Found 12 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
21587	1826	DSCAM	21	41504081	41504081	Asymptomatic	HiSeq X Ten
21589	1826	DSCAM	21	41597602	41597602	Asymptomatic	HiSeq X Ten HiSeq 2000
21597	1826	DSCAM	21	41978496	41978496	Asymptomatic	HiSeq X Ten HiSeq 2000
21700	1826	DSCAM	21	41646150	41646150	Asymptomatic	HiSeq X Ten HiSeq 2000
21717	1826	DSCAM	21	41475485	41475485	Asymptomatic	HiSeq X Ten HiSeq 2000
21751	1826	DSCAM	21	42089647	42089647	Asymptomatic	HiSeq X Ten HiSeq 2000
21755	1826	DSCAM	21	42368998	42368998	Asymptomatic	HiSeq X Ten HiSeq 2000
21767	1826	DSCAM	21	42381554	42381554	Cockayne syndrome	HiSeq X Ten HiSeq 2000
21770	1826	DSCAM	21	42462889	42462889	Cockayne syndrome	HiSeq X Ten HiSeq 2000
21793	1826	DSCAM	21	42032969	42032969	Cockayne syndrome	HiSeq X Ten HiSeq 2000
29198	1826	DSCAM	21	41684236	41684236	Autism Spectrum Disorders	HiSeq X Ten HiSeq 2000 PASM
29281	1826	DSCAM	21	41550838	41550838	Autism Spectrum Disorders	HiSeq X Ten HiSeq 2000 PASM