Hs02123326_cn

• Gene Symbol: CLHC1
• Assay Reference Genome Location: Chr.2:55180595 on build GRCh38
• Cytoband: 2p16.1

Target Gene Details

• Entrez Gene ID: 130162
• Gene Name: clathrin heavy chain linker domain containing 1
• Gene Aliases: C2orf63
• Location: Chr.2:55172547-55232563 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CLHC1	NM_001135598.1	9	1194	NP_001129070.1
	NM_152385.2	11	1645	NP_689598.2
	XM_005264136.2	10	1513	XP_005264193.1
	XM_006711937.3	8	952	XP_006712000.2
	XM_006711938.3	5	572	XP_006712001.1
	XM_006711939.3	4	444	XP_006712002.1
	XM_011532519.2	11	4538	XP_011530821.1
	XM_011532520.2	11	1816	XP_011530822.1
	XM_011532521.2	12	1972	XP_011530823.1
	XM_011532522.2	12	1959	XP_011530824.1
	XM_011532523.2	11	2048	XP_011530825.1
	XM_011532524.1	10	1430	XP_011530826.1
	XM_011532525.2	10	1496	XP_011530827.1
	XM_011532527.2	11	5140	XP_011530829.1
	XM_011532528.1	10	2040	XP_011530830.1
	XM_011532529.2	9	1999	XP_011530831.1
	XM_011532530.1	9	1760	XP_011530832.1
	XM_011532534.1	9	1379	XP_011530836.1
	XM_011532535.2	7	889	XP_011530837.1
	XM_017003333.1	9	4340	XP_016858822.1
	XM_017003334.1	9	1618	XP_016858823.1
	XM_017003335.1	9	4708	XP_016858824.1
	XM_017003336.1	10	2129	XP_016858825.1
	XM_017003337.1	8	1218	XP_016858826.1
	XM_017003338.1	8	1196	XP_016858827.1
	XM_017003339.1			XP_016858828.1
	XM_017003340.1	9	8640	XP_016858829.1
	XM_017003341.1	9	2125	XP_016858830.1
	XM_017003342.1	8	1626	XP_016858831.1
	XM_017003343.1	8	1842	XP_016858832.1
	XM_017003344.1	8	1930	XP_016858833.1
	XM_017003345.1	7	1800	XP_016858834.1
	XM_017003346.1			XP_016858835.1
	XM_017003347.1	6	1668	XP_016858836.1
	XM_017003348.1			XP_016858837.1
	XM_017003349.1	6	4087	XP_016858838.1
	XM_017003350.1	6	1598	XP_016858839.1
	AK056000.1	4	591	BAB71069.1
	AK315683.1	11	1603
	BC029502.1	11	1645	AAH29502.1
	BC036908.1	9	1194	AAH36908.1
	BM046729.1	5	551

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2720078	Chr.2:53962225 - 55281329 on Build GRCh38	Deletion	TSPYL6 SPTBN1 ACYP2 MTIF2 RTN4 PSME4 RPL23AP32 EML6 CLHC1 RPS27A C2orf73
nsv1010438	Chr.2:55146426 - 55223008 on Build GRCh38	Loss	CLHC1
nsv522016	Chr.2:55177658 - 55333162 on Build GRCh38	Gain	CCDC88A MTIF2 PRORSD1P CLHC1 RPS27A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

vesicle coat protein

Gene Ontology Categories:

Function(s)

protein binding