Name: [Hs02999067_cn] [RECQL5]
Creator: Thermo Fisher Scientific
Keywords: [RECQL5] Assay, [RecQ like helicase 5] Assay

Assay Details

Target Gene Details

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RECQL5	NM_004259.6	20	3586	NP_004250.4
	XM_005257818.3	20	3662	XP_005257875.1
	XM_005257822.3	13	2957	XP_005257879.1
	XM_006722186.2	13	2347	XP_006722249.1
	XM_011525482.2	19	4129	XP_011523784.1
	XM_011525484.1	14	2604	XP_011523786.1
	XM_011525485.2	14	2543	XP_011523787.1
	XM_011525486.2	13	2530	XP_011523788.1
	XM_017025343.1	19	4066	XP_016880832.1
	AB042824.1	20	3586	BAA95953.1
	AF193041.1	13	2962	AAG22469.1
	AK304168.1	21	3321
	AL136869.1	4	1049	CAB66803.3
	BC000570.2	14	2351	AAH00570.2
	BC005103.1	5	1310	AAH05103.1
	BC063440.1	20	3458	AAH63440.1
	EF560729.1	20	3551

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833544	Chr.17:75595541 - 75771639 on Build GRCh38	Loss	RECQL5 SAP30BP MYO15B SMIM5 GALK1 ITGB4 SMIM6
nsv470603	Chr.17:75468213 - 75741366 on Build GRCh38	Loss	RECQL5 LLGL2 SAP30BP MYO15B TSEN54 SMIM5 TMEM94 CASKIN2 ITGB4 MIR6785 SMIM6
nsv516133	Chr.17:75420733 - 75763223 on Build GRCh38	Loss	RECQL5 LLGL2 SAP30BP MYO15B TSEN54 SMIM5 TMEM94 GALK1 CASKIN2 ITGB4 MIR6785 SMIM6
nsv576027	Chr.17:75249939 - 75750289 on Build GRCh38	Gain	MRPS7 SAP30BP SMIM5 TMEM94 LOC100287042 CASKIN2 GGA3 MIR6785 MIR3678 SMIM6 RECQL5 LLGL2 MYO15B TSEN54 ITGB4 SLC25A19 MIF4GD GRB2
nsv576032	Chr.17:75591703 - 75631459 on Build GRCh38	Gain	RECQL5 MYO15B
nsv833543	Chr.17:75517604 - 75692749 on Build GRCh38	Loss	RECQL5 LLGL2 SAP30BP MYO15B TSEN54 SMIM5 SMIM6

Intragenic

Exonic

DGV Variation

Function(s) Process(es)