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See other RTEL1 CNV Assays ›
Gene Symbol
RTEL1
Assay Reference Genome
Location

Chr.20:63664719 on build GRCh38
Cytoband
20q13.33
Assay ID Hs04052225_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 51750

Gene Name:

 regulator of telomere elongation helicase 1

Gene Aliases:

 C20orf41, DKCA4, DKCB5, NHL, PFBMFT3, RTEL

Location:

 Chr.20:63657810-63696253 on Build GRCh38

Assay Gene Location:

 Within Intron 6
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RTEL1 NM_001283009.1 NP_001269938.1
NM_001283010.1 NP_001269939.1
NM_016434.3 NP_057518.1
NM_032957.4 NP_116575.3
AF217795.1 AAF33687.1
AK299332.1
AK302508.1
AK304798.1
JX119186.1

Target Gene Details

Entrez Gene ID:

 100533107

Gene Name:

 RTEL1-TNFRSF6B readthrough (NMD candidate)

Gene Aliases:

 -

Location:

 Chr.20:63657810-63698698 on Build GRCh38

Assay Gene Location:

 Within Intron 6
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
RTEL1-TNFRSF6B NR_037882.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv953308 Chr.20:63650148 - 63831847 on Build GRCh38 Deletion ARFRP1 TNFRSF6B LIME1 ZBTB46 RTEL1 STMN3 ZGPAT SLC2A4RG RTEL1-TNFRSF6B ZBTB46-AS1
nsv1160690 Chr.20:63639552 - 63744287 on Build GRCh38 Deletion ARFRP1 TNFRSF6B LIME1 ZBTB46 RTEL1 STMN3 ZGPAT SLC2A4RG RTEL1-TNFRSF6B
nsv428381 Chr.20:63583375 - 64334167 on Build GRCh38 Gain+Loss MIR6813 UCKL1 UCKL1-AS1 MIR941-1 LINC00266-1 RTEL1-TNFRSF6B TPD52L2 ZNF512B TNFRSF6B LIME1 MIR941-2 TCEA2 SLC2A4RG ABHD16B DNAJC5 PCMTD2 MIR941-5 ARFRP1 LKAAEAR1 MIR1914 MIR941-3 GMEB2 MIR647 MIR941-4 LINC00176 LOC100505771 NPBWR2 ZBTB46 RTEL1 RGS19 STMN3 OPRL1 ZGPAT C20orf181 SOX18 SAMD10 PRPF6 ZBTB46-AS1 MYT1
nsv470563 Chr.20:63486715 - 63793308 on Build GRCh38 Loss ARFRP1 EEF1A2 RTEL1-TNFRSF6B GMEB2 LOC100505771 PPDPF TNFRSF6B FNDC11 LIME1 ZBTB46 HELZ2 RTEL1 STMN3 ZGPAT PTK6 SLC2A4RG SRMS
esv2758806 Chr.20:63470996 - 63745014 on Build GRCh38 Gain+Loss ARFRP1 KCNQ2 EEF1A2 RTEL1-TNFRSF6B GMEB2 LOC100505771 PPDPF TNFRSF6B FNDC11 LIME1 ZBTB46 HELZ2 RTEL1 STMN3 ZGPAT PTK6 SLC2A4RG SRMS

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