Hs03362683_cn

• Gene Symbol: ALPL
• Assay Reference Genome Location: Chr.1:21509072 on build GRCh38
• Cytoband: 1p36.12

Target Gene Details

• Entrez Gene ID: 249
• Gene Name: alkaline phosphatase, liver/bone/kidney
• Gene Aliases: AP-TNAP, APTNAP, HOPS, TNAP, TNSALP
• Location: Chr.1:21508982-21578412 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ALPL	XM_005245818.1			XP_005245875.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv428432	Chr.1:21409691 - 21615921 on Build GRCh38	Gain	ALPL NBPF3 RAP1GAP
esv34155	Chr.1:21367084 - 21840123 on Build GRCh38	Loss	USP48 LDLRAD2 ALPL HSPG2 NBPF3 RAP1GAP

More Information

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

Panther Classification:

Molecular Function -

phosphatase

Gene Ontology Categories:

Process(es)

skeletal system development
osteoblast differentiation
endochondral ossification
developmental process involved in reproduction
dephosphorylation
response to lipopolysaccharide
response to vitamin D
response to antibiotic
response to glucocorticoid
cellular response to organic cyclic compound
cementum mineralization

Function(s)

alkaline phosphatase activity
protein binding
pyrophosphatase activity
metal ion binding