Hs02952332_cn

• Gene Symbol: SPRR1A
• Assay Reference Genome Location: Chr.1:152985168 on build GRCh38
• Cytoband: 1q21.3

Target Gene Details

• Entrez Gene ID: 6698
• Gene Name: small proline rich protein 1A
• Gene Aliases: SPRK
• Location: Chr.1:152984088-152985814 on Build GRCh38
• Assay Gene Location: Overlaps Intron 1 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SPRR1A	NM_001199828.1			NP_001186757.1
	NM_005987.3			NP_005978.2
	BC105081.1			AAI05082.1
	BC105083.1			AAI05084.1
	BC143782.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv998873	Chr.1:152896651 - 153002782 on Build GRCh38	Gain	SPRR3 IVL SPRR4 SPRR1A LINC01527
nsv831592	Chr.1:152842578 - 153024686 on Build GRCh38	Gain	SMCP LCE6A SPRR3 IVL SPRR4 SPRR1A LINC01527
nsv547899	Chr.1:152699529 - 153272606 on Build GRCh38	Gain	SPRR2A PRR9 LCE4A LCE1F SPRR2D SMCP LCE1A SPRR2E LCE1D SPRR4 C1orf68 LOR SPRR2G SPRR1B LCE6A LCE1E LCE1B SPRR2C SPRR3 LOC101928009 LCE1C IVL SPRR2F LELP1 SPRR2B SPRR1A LINC01527 KPRP

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
protein binding
protein binding, bridging