Hs01726972_cn

• Gene Symbol: ABCB8
• Assay Reference Genome Location: Chr.7:151036650 on build GRCh38
• Cytoband: 7q36.1

Target Gene Details

• Entrez Gene ID: 11194
• Gene Name: ATP binding cassette subfamily B member 8
• Gene Aliases: EST328128, M-ABC1, MABC1
• Location: Chr.7:151028422-151047782 on Build GRCh38
• Assay Gene Location: Overlaps Exon 10 - Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCB8	NM_001282291.1			NP_001269220.1
	NM_001282292.1			NP_001269221.1
	NM_001282293.1			NP_001269222.1
	NM_007188.4			NP_009119.2
	AF047690.1			AAD15748.1
	AK002018.1			BAA92038.1
	AK024401.1
	AK094005.1
	AK094636.1			BAC04392.1
	AK222911.1			BAD96631.1
	AK294344.1
	AK310796.1
	AK314721.1
	BC141814.1
	BC141836.1
	BC151235.1
	U66688.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv526410	Chr.7:151017725 - 151078219 on Build GRCh38	Loss	CDK5 ASIC3 ABCB8 FASTK SLC4A2 ATG9B
nsv951648	Chr.7:150931413 - 151106413 on Build GRCh38	Deletion	NOS3 CDK5 AGAP3 KCNH2 ASIC3 ABCB8 FASTK TMUB1 SLC4A2 ATG9B
nsv524928	Chr.7:151034611 - 151069712 on Build GRCh38	Gain	CDK5 ASIC3 ABCB8 SLC4A2
dgv6756n100	Chr.7:151033912 - 151093430 on Build GRCh38	Gain	CDK5 AGAP3 ASIC3 ABCB8 FASTK TMUB1 SLC4A2

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

ATP-binding cassette (ABC) transporter

Gene Ontology Categories:

Process(es)

transport
transmembrane transport

Function(s)

transporter activity
ATP binding
ATPase activity, coupled to transmembrane movement of substances