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

Chr.20:63675846 on build GRCh38
Cytoband
20q13.33
Assay ID Hs04046749_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 10
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 10
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 RTEL1 ZBTB46 ZBTB46-AS1 SLC2A4RG LIME1 ARFRP1 ZGPAT TNFRSF6B RTEL1-TNFRSF6B STMN3
nsv189 Chr.20:63675224 - 63696350 on Build GRCh38 Insertion RTEL1 RTEL1-TNFRSF6B
nsv1160690 Chr.20:63639552 - 63744287 on Build GRCh38 Deletion RTEL1 ZBTB46 SLC2A4RG LIME1 ARFRP1 ZGPAT TNFRSF6B RTEL1-TNFRSF6B STMN3
nsv428381 Chr.20:63583375 - 64334167 on Build GRCh38 Gain+Loss LOC100505771 LKAAEAR1 PRPF6 TCEA2 NPBWR2 DNAJC5 SOX18 MIR647 MIR941-2 SAMD10 PCMTD2 MYT1 SLC2A4RG UCKL1 ZGPAT C20orf181 TPD52L2 OPRL1 MIR941-4 RTEL1 RGS19 ZBTB46 LINC00176 ZBTB46-AS1 ARFRP1 MIR941-5 RTEL1-TNFRSF6B STMN3 GMEB2 MIR1914 LINC00266-1 ZNF512B MIR941-1 MIR6813 LIME1 ABHD16B MIR941-3 TNFRSF6B UCKL1-AS1
nsv470563 Chr.20:63486715 - 63793308 on Build GRCh38 Loss RTEL1 LOC100505771 ZBTB46 ARFRP1 PPDPF RTEL1-TNFRSF6B SRMS STMN3 GMEB2 HELZ2 SLC2A4RG LIME1 ZGPAT TNFRSF6B EEF1A2 PTK6 FNDC11
esv2758806 Chr.20:63470996 - 63745014 on Build GRCh38 Gain+Loss RTEL1 LOC100505771 ZBTB46 ARFRP1 PPDPF KCNQ2 RTEL1-TNFRSF6B SRMS STMN3 GMEB2 HELZ2 SLC2A4RG LIME1 ZGPAT TNFRSF6B EEF1A2 PTK6 FNDC11

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