Name: [Hs01891714_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	1835	NP_001103689.1
	NM_001110220.2	4	1725	NP_001103690.1
	NM_001110221.2	3	1601	NP_001103691.1
	NM_006783.4	3	1767	NP_006774.2
	XM_017020357.1	4	2040	XP_016875846.1
	XM_017020358.1	5	1730	XP_016875847.1
	XM_017020359.1	5	1760	XP_016875848.1
	XM_017020360.1	4	1527	XP_016875849.1
	AK075247.1	5	1667
	BC038934.1	3	1462	AAH38934.1
	BE181310.1
	BE185135.1	1	299
	CF453597.1	1	603
	DB339720.1	1	297
	DB577868.1	1	174

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	GJB6 CRYL1 MIR4499
esv3631421	Chr.13:20145912 - 20223722 on Build GRCh38	Gain	GJB2 GJB6 GJA3
nsv1046946	Chr.13:19730301 - 20507454 on Build GRCh38	Gain	LINC01072 GJB2 ZMYM2 GJB6 CRYL1 ZMYM5 PSPC1 GJA3 MIR4499
esv2751132	Chr.13:20217943 - 20546665 on Build GRCh38	Loss	GJB6 CRYL1 MIR4499