Hs01397840_cn

• Gene Symbol: ANKH
• Assay Reference Genome Location: Chr.5:14716760 on build GRCh38
• Cytoband: 5p15.2

Target Gene Details

• Entrez Gene ID: 56172
• Gene Name: ANKH inorganic pyrophosphate transport regulator
• Gene Aliases: ANK, CCAL2, CMDJ, CPPDD, HANK, MANK
• Location: Chr.5:14704800-14871778 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ANKH	NM_054027.4	9	1418	NP_473368.1
	XM_017009644.1	9	1018	XP_016865133.1
	AB046801.1	9	1248
	AF274753.1	9	1155	AAF88039.1
	AK001799.1	5	543
	AK130676.1	4	382
	AK315012.1	9	1116
	AY358503.1	9	1169	AAQ88867.1
	BC009835.2	9	1343	AAH09835.1
	BC014526.2	9	1143	AAH14526.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1026914	Chr.5:14237673 - 14751479 on Build GRCh38	Gain	FAM105A OTULIN SNORD141B LOC100130744 ANKH TRIO
nsv1018187	Chr.5:14385055 - 15126994 on Build GRCh38	Gain	FAM105A OTULIN SNORD141B LOC100130744 MIR4637 ANKH TRIO
nsv4728	Chr.5:14691303 - 14725902 on Build GRCh38	Insertion	OTULIN LOC100130744 ANKH

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

skeletal system development
locomotory behavior
regulation of bone mineralization
inorganic diphosphate transport
phosphate ion transmembrane transport
transmembrane transport

Function(s)

inorganic phosphate transmembrane transporter activity
phosphate ion transmembrane transporter activity
inorganic diphosphate transmembrane transporter activity