Name: [Hs01594678_cn] [GJB6]
Creator: Thermo Fisher Scientific
Keywords: [GJB6] Assay, [gap junction protein beta 6] Assay

Genomic Map

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Assay Details

Entrez Gene ID:	10804
Gene Name:	gap junction protein beta 6
Gene Aliases:	CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2
Location:	Chr.13:20221962-20232395 on Build GRCh38
Assay Gene Location:	Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GJB6	NM_001110219.2	5	1637	NP_001103689.1
	NM_001110220.2	4	1527	NP_001103690.1
	NM_001110221.2	3	1403	NP_001103691.1
	NM_006783.4	3	1569	NP_006774.2
	XM_017020357.1	4	1842	XP_016875846.1
	XM_017020358.1	5	1532	XP_016875847.1
	XM_017020359.1	5	1562	XP_016875848.1
	XM_017020360.1	4	1329	XP_016875849.1
	AK075247.1	5	1469
	BC038934.1	3	1264	AAH38934.1
	BE181310.1	1	209
	BE185135.1	1	101
	CF453597.1	1	405
	DB339720.1	1	495
	DB577868.1

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3631424	Chr.13:20190147 - 20280383 on Build GRCh38	Gain	GJB2 GJB6
esv3631426	Chr.13:20219223 - 20261765 on Build GRCh38	Gain	GJB6
dgv3072n54	Chr.13:20216603 - 20521581 on Build GRCh38	Loss	CRYL1 GJB6 MIR4499
esv3631421	Chr.13:20145912 - 20223722 on Build GRCh38	Gain	GJA3 GJB2 GJB6
nsv1046946	Chr.13:19730301 - 20507454 on Build GRCh38	Gain	LINC01072 CRYL1 GJA3 PSPC1 GJB2 GJB6 ZMYM2 MIR4499 ZMYM5
esv2751132	Chr.13:20217943 - 20546665 on Build GRCh38	Loss	CRYL1 GJB6 MIR4499