Product Details

Assay Reference Genome
Location

Chr.8:144515371 on build GRCh38
Cytoband
8q24.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

For this assay, SNP(s) [rs535692036] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Target Gene Details

Entrez Gene ID
9401
Gene Symbol
RECQL4
Gene Name
RecQ like helicase 4
Gene Aliases
RECQ4
Location
Chr.8:144511284-144517833 on build GRCh38
Assay Gene Location
Within Exon 5
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
RECQL4 NM_004260.3 7 1387 NP_004251.3
XM_011517384.2 7 1387 XP_011515686.1
XM_017013991.1 7 1392 XP_016869480.1
XM_017013992.1 7 1391 XP_016869481.1
XM_017013993.1 7 1391 XP_016869482.1
XM_017013994.1 8 1297 XP_016869483.1
XM_017013995.1 7 1389 XP_016869484.1
XM_017013996.1 7 1390 XP_016869485.1
XM_017013997.1 7 1392 XP_016869486.1
XM_017013998.1 7 1389 XP_016869487.1
XM_017013999.1 7 1391 XP_016869488.1
XM_017014000.1 3 303 XP_016869489.1
XM_017014001.1 5 1483 XP_016869490.1
AB006532.1 7 1345 BAA74453.1
KJ147518.1 3 892

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv470249 Chr8:143889098 - 144519234 on Build GRCh38 Loss SPATC1 LOC101928953 VPS28 OPLAH HGH1 FBXL6 PPP1R16A GRINA KIFC2 SLC52A2 WDR97 CYHR1 MIR1234 MROH1 SHARPIN MFSD3 RECQL4 CPSF1 MIR7112 PARP10 LRRC14 MIR939 TONSL-AS1 PLEC GPT TONSL SMPD5 GPAA1 LOC101928902 MIR6849 MIR6846 CYC1 MIR661 BOP1 MAF1 EXOSC4 MIR6893 MIR6847 MIR6848 ADCK5 SLC39A4 HSF1 FOXH1 TMEM249 SCX SCRT1 DGAT1
nsv612951 Chr8:144479830 - 144677692 on Build GRCh38 Loss LOC101928953 MFSD3 C8orf82 ARHGAP39 RECQL4 LRRC14 PPP1R16A LRRC24 GPT
nsv831489 Chr8:144342140 - 144544026 on Build GRCh38 Loss LOC101928953 VPS28 FBXL6 PPP1R16A KIFC2 SLC52A2 CYHR1 MIR1234 MFSD3 RECQL4 CPSF1 LRRC14 MIR939 LRRC24 TONSL-AS1 GPT TONSL LOC101928902 MIR6849 MIR6893 C8orf82 ARHGAP39 ADCK5 SLC39A4 FOXH1 TMEM249
dgv1207n67 Chr8:144498396 - 144532417 on Build GRCh38 Gain LOC101928953 MFSD3 C8orf82 ARHGAP39 RECQL4 LRRC14 PPP1R16A LRRC24 GPT
dgv12439n54 Chr8:144438306 - 144525122 on Build GRCh38 Loss LOC101928953 MFSD3 RECQL4 LRRC14 PPP1R16A FOXH1 KIFC2 LRRC24 CYHR1 TONSL-AS1 GPT TONSL
dgv907n27 Chr8:144416180 - 144525122 on Build GRCh38 Loss LOC101928953 VPS28 PPP1R16A KIFC2 CYHR1 MIR6893 MFSD3 RECQL4 SLC39A4 LRRC14 FOXH1 LRRC24 TONSL-AS1 GPT TONSL
dgv12442n54 Chr8:144492696 - 144516381 on Build GRCh38 Loss LOC101928953 MFSD3 RECQL4 PPP1R16A GPT
dgv12434n54 Chr8:144270080 - 144516801 on Build GRCh38 Loss LOC101928953 VPS28 FBXL6 PPP1R16A KIFC2 SLC52A2 CYHR1 MIR1234 MFSD3 RECQL4 CPSF1 MIR939 TONSL-AS1 GPT TONSL LOC101928902 MIR6849 BOP1 MIR6893 MIR6848 ADCK5 SLC39A4 HSF1 FOXH1 TMEM249 SCRT1 DGAT1
dgv12443n54 Chr8:144502322 - 144518490 on Build GRCh38 Loss LOC101928953 MFSD3 RECQL4 LRRC14 GPT
nsv515809 Chr8:143904439 - 144519234 on Build GRCh38 Gain+Loss SPATC1 LOC101928953 VPS28 OPLAH HGH1 FBXL6 PPP1R16A GRINA KIFC2 SLC52A2 WDR97 CYHR1 MIR1234 MROH1 SHARPIN MFSD3 RECQL4 CPSF1 MIR7112 PARP10 LRRC14 MIR939 TONSL-AS1 PLEC GPT TONSL SMPD5 GPAA1 LOC101928902 MIR6849 MIR6846 CYC1 MIR661 BOP1 MAF1 EXOSC4 MIR6893 MIR6847 MIR6848 ADCK5 SLC39A4 HSF1 FOXH1 TMEM249 SCX SCRT1 DGAT1
nsv612940 Chr8:144436292 - 144613673 on Build GRCh38 Loss LOC101928953 PPP1R16A KIFC2 CYHR1 MFSD3 C8orf82 ARHGAP39 RECQL4 LRRC14 FOXH1 LRRC24 TONSL-AS1 GPT TONSL
nsv428208 Chr8:144041826 - 144722291 on Build GRCh38 Gain SPATC1 LOC101928953 VPS28 OPLAH HGH1 FBXL6 PPP1R16A KIFC2 SLC52A2 WDR97 CYHR1 MIR1234 MROH1 SHARPIN MFSD3 RECQL4 CPSF1 MIR7112 LRRC14 MIR939 LRRC24 TONSL-AS1 GPT TONSL SMPD5 GPAA1 LOC101928902 MIR6849 MIR6846 CYC1 BOP1 MAF1 EXOSC4 MIR6893 MIR6847 C8orf82 ARHGAP39 ZNF251 MIR6848 ADCK5 SLC39A4 HSF1 FOXH1 TMEM249 SCX SCRT1 DGAT1
nsv612965 Chr8:144508945 - 144516381 on Build GRCh38 Loss MFSD3 RECQL4
esv29999 Chr8:144456732 - 144525122 on Build GRCh38 Loss LOC101928953 MFSD3 RECQL4 LRRC14 PPP1R16A FOXH1 KIFC2 LRRC24 CYHR1 GPT

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