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

Chr.20:63678399 on build GRCh38
Cytoband
20q13.33
Assay ID Hs04042615_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 12
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 12
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-TNFRSF6B RTEL1 LIME1 SLC2A4RG TNFRSF6B STMN3 ZBTB46-AS1 ARFRP1 ZGPAT ZBTB46
nsv1160690 Chr.20:63639552 - 63744287 on Build GRCh38 Deletion RTEL1-TNFRSF6B RTEL1 LIME1 SLC2A4RG TNFRSF6B STMN3 ARFRP1 ZGPAT ZBTB46
nsv3449 Chr.20:63675224 - 63696622 on Build GRCh38 Insertion RTEL1-TNFRSF6B RTEL1
nsv428381 Chr.20:63583375 - 64334167 on Build GRCh38 Gain+Loss PCMTD2 OPRL1 UCKL1 SLC2A4RG SAMD10 MIR6813 MIR941-5 SOX18 LKAAEAR1 C20orf181 ZGPAT MIR647 TPD52L2 RTEL1 LIME1 MIR941-3 UCKL1-AS1 MYT1 TNFRSF6B STMN3 MIR941-4 LINC00266-1 ARFRP1 PRPF6 ZNF512B DNAJC5 ABHD16B RGS19 MIR941-1 NPBWR2 GMEB2 LINC00176 ZBTB46 MIR941-2 RTEL1-TNFRSF6B LOC100505771 MIR1914 TCEA2 ZBTB46-AS1
nsv470563 Chr.20:63486715 - 63793308 on Build GRCh38 Loss SLC2A4RG PPDPF GMEB2 FNDC11 ZGPAT ZBTB46 EEF1A2 RTEL1-TNFRSF6B LOC100505771 RTEL1 HELZ2 LIME1 TNFRSF6B PTK6 SRMS STMN3 ARFRP1
esv2758806 Chr.20:63470996 - 63745014 on Build GRCh38 Gain+Loss SLC2A4RG PPDPF GMEB2 FNDC11 ZGPAT ZBTB46 EEF1A2 RTEL1-TNFRSF6B LOC100505771 RTEL1 HELZ2 LIME1 KCNQ2 TNFRSF6B PTK6 SRMS STMN3 ARFRP1
nsv179257 Chr.20:63676608 - 63684977 on Build GRCh38 Deletion RTEL1-TNFRSF6B RTEL1

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