Hs02118346_cn

• Gene Symbol: KLHDC1
• Assay Reference Genome Location: Chr.14:49709765 on build GRCh38
• Cytoband: 14q21.3

Target Gene Details

• Entrez Gene ID: 122773
• Gene Name: kelch domain containing 1
• Gene Aliases: MST025
• Location: Chr.14:49693105-49753152 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
KLHDC1	NM_172193.2	3	314	NP_751943.1
	XM_011536422.2	3	237	XP_011534724.1
	AF111806.1	3	252	AAL39008.1
	AK127202.1	3	237
	BC101595.1	3	314	AAI01596.1
	BC101597.1	3	314	AAI01598.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1035708	Chr.14:49632775 - 49749281 on Build GRCh38	Gain	POLE2 KLHDC1 DNAAF2
esv3634468	Chr.14:49701681 - 49710803 on Build GRCh38	Gain	KLHDC1
esv3634466	Chr.14:49643688 - 49728973 on Build GRCh38	Gain	POLE2 KLHDC1
esv28926	Chr.14:49426970 - 50475809 on Build GRCh38	Gain+Loss	RN7SL2 SOS2 RN7SL1 LINC01599 VCPKMT CDKL1 MIR6076 ARF6 RPL36AL RPS29 LOC100288910 POLE2 KLHDC2 KLHDC1 NEMF LINC01588 MIR4504 ATP5S DNAAF2 MGAT2 L2HGDH LRR1 MAP4K5 LOC100506446

More Information

• Set Membership: Intragenic, Exonic, DGV Variation