Hs05296824_cn

• Gene Symbol: UBAC2
• Assay Reference Genome Location: Chr.13:99239048 on build GRCh38
• Cytoband: 13q32.3

Target Gene Details

• Entrez Gene ID: 337867
• Gene Name: UBA domain containing 2
• Gene Aliases: PHGDHL1
• Location: Chr.13:99200425-99386499 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
UBAC2	NM_001144072.1			NP_001137544.1
	NM_177967.3			NP_808882.1
	NR_026644.1
	XM_006719948.3			XP_006720011.1
	XM_011521082.2			XP_011519384.1
	XM_011521083.2			XP_011519385.1
	XM_011521084.2			XP_011519386.1
	AK054563.1			BAB70757.1
	AK075419.1			BAC11609.1
	AK075516.1			BAC11665.1
	AK124404.1
	AK129861.1
	AK290342.1
	AK300908.1
	BC121138.1
	BC121139.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3892433	Chr.13:98843569 - 99243711 on Build GRCh38	Gain	DOCK9-AS2 UBAC2 UBAC2-AS1 DOCK9
nsv1050094	Chr.13:98974062 - 99323969 on Build GRCh38	Gain	GPR183 DOCK9-AS2 UBAC2 UBAC2-AS1 DOCK9 GPR18
esv3582749	Chr.13:99137911 - 99253291 on Build GRCh38	Gain	UBAC2 UBAC2-AS1

More Information

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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

protein localization to endoplasmic reticulum
negative regulation of retrograde protein transport, ER to cytosol

Function(s)

protein binding