Hs01530424_cn

• Gene Symbol: CRYBA1
• Assay Reference Genome Location: Chr.17:29254248 on build GRCh38
• Cytoband: 17q11.2

Target Gene Details

• Entrez Gene ID: 1411
• Gene Name: crystallin beta A1
• Gene Aliases: CRYB1, CTRCT10
• Location: Chr.17:29246857-29254494 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CRYBA1	NM_005208.4			NP_005199.2
	XM_017024198.1			XP_016879687.1
	BC069537.1			AAH69537.1
	BC113693.1
	BU735083.1
	KM230602.1
	KM230603.1
	KM230604.1
	KM230605.1
	KR336660.1
	KR336661.1
	U59058.1			AAC50971.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv953873	Chr.17:29250583 - 29259382 on Build GRCh38	Duplication	NUFIP2 CRYBA1

More Information

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

Gene Ontology Categories:

Process(es)

negative regulation of cytokine production
lens development in camera-type eye
visual perception
negative regulation of phosphatidylinositol 3-kinase signaling
negative regulation of TOR signaling
negative regulation of protein kinase B signaling
negative regulation of ERK1 and ERK2 cascade
positive regulation of anoikis

Function(s)

molecular_function
structural constituent of eye lens
protein binding