Hs00275356_cn

• Gene Symbol: ABCB6
• Assay Reference Genome Location: Chr.2:219210846 on build GRCh38
• Cytoband: 2q35

Target Gene Details

• Entrez Gene ID: 10058
• Gene Name: ATP binding cassette subfamily B member 6 (Langereis blood group)
• Gene Aliases: ABC, ABC14, DUH3, LAN, MCOPCB7, MTABC3, PRP, PSHK2, umat
• Location: Chr.2:219209766-219218990 on Build GRCh38
• Assay Gene Location: Overlaps Intron 15 - Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABCB6	NM_005689.2			NP_005680.1
	AF070598.1			AAC28653.1
	AF076775.1			AAF75107.1
	AF308472.1			AAG33617.1
	AJ289233.2			CAB95766.2
	AK026067.1
	AK057026.1			BAB71347.1
	AK172812.1			BAD18782.1
	BC000559.2			AAH00559.1
	BC043423.1			AAH43423.1
	U66673.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3893555	Chr.2:219172722 - 219273269 on Build GRCh38	Loss	FAM134A ABCB6 STK16 CNPPD1 GLB1L ZFAND2B TUBA4A TUBA4B ANKZF1 ATG9A
nsv584500	Chr.2:219210071 - 219224963 on Build GRCh38	Loss	ABCB6 ATG9A

More Information

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

Panther Classification:

Molecular Function -

ATP-binding cassette (ABC) transporter

Gene Ontology Categories:

Process(es)

porphyrin-containing compound biosynthetic process
transport
cellular iron ion homeostasis
brain development
heme transport
skin development
transmembrane transport

Function(s)

ATP binding
heme transporter activity
heme-transporting ATPase activity
efflux transmembrane transporter activity
heme binding