Hs00999337_cn

• Gene Symbol: ABCA8
• Assay Reference Genome Location: Chr.17:68903383 on build GRCh38
• Cytoband: 17q24.2

Target Gene Details

• Entrez Gene ID: 10351
• Gene Name: ATP binding cassette subfamily A member 8
• Gene Aliases: -
• Location: Chr.17:68867285-68955426 on Build GRCh38
• Assay Gene Location: Within Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCA8	NM_001288985.1	20	2855	NP_001275914.1
	NM_001288986.1	19	2694	NP_001275915.1
	NM_007168.3	18	2574	NP_009099.1
	XM_005256938.2	19	2722	XP_005256995.1
	XM_005256940.4	18	2627	XP_005256997.1
	XM_011524191.2	19	2685	XP_011522493.1
	XM_011524192.2	19	2685	XP_011522494.1
	AB020629.1	18	2533
	AK295876.1	19	2667
	AK304286.1	18	2526
	AK304360.1	19	2665
	BC037309.1	20	2622	AAH37309.1
	BC130280.1	20	2704

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1066412	Chr.17:68901399 - 68957926 on Build GRCh38	Loss	ABCA8
nsv1061151	Chr.17:68885476 - 68977776 on Build GRCh38	Gain	ABCA9 ABCA8
nsv575928	Chr.17:68898720 - 68917795 on Build GRCh38	Loss	ABCA8

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

ATP-binding cassette (ABC) transporter, primary active transporter, transporter

Gene Ontology Categories:

Process(es)

transport
drug transmembrane transport
lipid transport
xenobiotic transport
transmembrane transport

Function(s)

ATP binding
xenobiotic-transporting ATPase activity
ATPase activity, coupled to transmembrane movement of substances