Hs07490419_cn

• Gene Symbol: SPRR2D
• Assay Reference Genome Location: Chr.1:153041009 on build GRCh38
• Cytoband: 1q21.3

Target Gene Details

• Entrez Gene ID: 6703
• Gene Name: small proline rich protein 2D
• Gene Aliases: -
• Location: Chr.1:153039725-153041144 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPRR2D	NM_006945.4			NP_008876.3
	XM_017002175.1			XP_016857664.1
	AK291317.1
	BC120938.1
	BG183546.1
	M21302.1			AAA36640.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv547899	Chr.1:152699529 - 153272606 on Build GRCh38	Gain	LCE1B SPRR1B SPRR2G LCE1E SPRR1A PRR9 SPRR2D LOR SPRR2A LELP1 LCE1C SPRR4 LCE1F SPRR2F KPRP LCE1A IVL LOC101928009 LCE6A LCE4A LINC01527 LCE1D SPRR2B SMCP SPRR3 SPRR2E SPRR2C C1orf68

More Information

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

Gene Ontology Categories:

Process(es)

epidermis development
peptide cross-linking
keratinocyte differentiation
keratinization

Function(s)

structural molecule activity