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See other RECQL5 CNV Assays ›
Gene Symbol
RECQL5
Assay Reference Genome
Location

Chr.17:75667163 on build GRCh38
Cytoband
17q25.1
Assay ID Hs01495924_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 9400

Gene Name:

 RecQ like helicase 5

Gene Aliases:

 RECQ5

Location:

 Chr.17:75626845-75667202 on Build GRCh38

Assay Gene Location:

 Overlaps - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RECQL5 NM_001003715.3 NP_001003715.1
NM_001003716.3 NP_001003716.1
NM_004259.6 NP_004250.4
XM_005257818.3 XP_005257875.1
XM_005257823.3 XP_005257880.1
XM_011525482.2 XP_011523784.1
XM_017025343.1 XP_016880832.1
XM_017025344.1 XP_016880833.1
AB042823.1 BAA95952.1
AB042824.1 BAA95953.1
AB042825.1 BAA95954.1
AK075084.1
AK304168.1
BC016911.1 AAH16911.1
BC063440.1 AAH63440.1
DB091647.1
EF560729.1

Target Gene Details

Entrez Gene ID:

 29115

Gene Name:

 SAP30 binding protein

Gene Aliases:

 HCNGP, HTRG, HTRP

Location:

 Chr.17:75667116-75708062 on Build GRCh38

Assay Gene Location:

 Overlaps - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
SAP30BP NM_001301839.1 NP_001288768.1
NM_001301855.1 NP_001288784.1
NM_013260.7 NP_037392.1
NR_126036.1
NR_126037.1
AF450482.1 AAL47177.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv833544 Chr.17:75595541 - 75771639 on Build GRCh38 Loss SMIM6 SMIM5 ITGB4 MYO15B SAP30BP RECQL5 GALK1
nsv470603 Chr.17:75468213 - 75741366 on Build GRCh38 Loss TMEM94 SMIM6 MIR6785 SMIM5 ITGB4 LLGL2 MYO15B SAP30BP RECQL5 TSEN54 CASKIN2
nsv516133 Chr.17:75420733 - 75763223 on Build GRCh38 Loss TMEM94 SMIM6 MIR6785 SMIM5 ITGB4 LLGL2 MYO15B SAP30BP RECQL5 TSEN54 GALK1 CASKIN2
nsv576027 Chr.17:75249939 - 75750289 on Build GRCh38 Gain TMEM94 MIR6785 SMIM5 LLGL2 MYO15B SAP30BP RECQL5 GRB2 GGA3 CASKIN2 SMIM6 MIF4GD MRPS7 LOC100287042 MIR3678 SLC25A19 ITGB4 TSEN54
nsv833543 Chr.17:75517604 - 75692749 on Build GRCh38 Loss SMIM6 SMIM5 LLGL2 MYO15B SAP30BP RECQL5 TSEN54

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