ASCC3 (Entrez ID: 10973)

Entrez Gene ID	10973
Official Gene Symbol	ASCC3 (GeneCards)
Full name	activating signal cointegrator 1 complex subunit 3
Location	6q16.3
Other ids	Vega : OTTHUMG00000015279 MIM : 614217 HGNC : HGNC:18697 Ensembl : ENSG00000112249
Other names	RNAH, HELIC1, ASC1p200
Summary	This gene encodes a protein that belongs to a family of helicases that are involved in the ATP-dependent unwinding of nucleic acid duplexes. The encoded protein is the largest subunit of the activating signal cointegrator 1 complex that is involved in DNA repair and resistance to alkylation damage. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Variants

Found 9 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
8983	10973	ASCC3	6	101304912	101304912	Asymptomatic	HiSeq X Ten
9537	10973	ASCC3	6	101625847	101625847	Asymptomatic	HiSeq X Ten
9568	10973	ASCC3	6	101809876	101809876	Asymptomatic	HiSeq X Ten
9595	10973	ASCC3	6	101174903	101174903	Asymptomatic	HiSeq X Ten
9612	10973	ASCC3	6	100989214	100989214	Asymptomatic	HiSeq X Ten
9879	10973	ASCC3	6	101270450	101270450	Asymptomatic	HiSeq X Ten
10127	10973	ASCC3	6	101414246	101414246	Cockayne syndrome	HiSeq X Ten
26054	10973	ASCC3	6	101780087	101780087	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning
26074	10973	ASCC3	6	101628772	101628772	Asymptomatic	HiSeq X Ten Single cell Sequencing Cell cloning