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: | Overlaps Exon 7 - Intron 7 |
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: | Overlaps Exon 7 - Intron 7 |
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 | ZBTB46 LIME1 RTEL1-TNFRSF6B STMN3 ZBTB46-AS1 ZGPAT SLC2A4RG ARFRP1 TNFRSF6B RTEL1 |
nsv1160690 | Chr.20:63639552 - 63744287 on Build GRCh38 | Deletion | ZBTB46 LIME1 RTEL1-TNFRSF6B STMN3 ZGPAT SLC2A4RG ARFRP1 TNFRSF6B RTEL1 |
nsv428381 | Chr.20:63583375 - 64334167 on Build GRCh38 | Gain+Loss | UCKL1 STMN3 MIR647 GMEB2 SLC2A4RG RGS19 LIME1 RTEL1-TNFRSF6B MIR941-2 SOX18 TPD52L2 MIR941-1 ABHD16B MIR941-3 MYT1 TNFRSF6B UCKL1-AS1 ZNF512B LOC100505771 MIR941-4 MIR941-5 MIR1914 SAMD10 ZBTB46-AS1 ZGPAT TCEA2 ARFRP1 MIR6813 PCMTD2 RTEL1 ZBTB46 LINC00176 NPBWR2 C20orf181 LKAAEAR1 LINC00266-1 OPRL1 DNAJC5 PRPF6 |
nsv470563 | Chr.20:63486715 - 63793308 on Build GRCh38 | Loss | LOC100505771 STMN3 HELZ2 SRMS GMEB2 ZGPAT SLC2A4RG ARFRP1 PTK6 RTEL1 FNDC11 EEF1A2 ZBTB46 LIME1 RTEL1-TNFRSF6B PPDPF TNFRSF6B |
esv2758806 | Chr.20:63470996 - 63745014 on Build GRCh38 | Gain+Loss | LOC100505771 STMN3 HELZ2 SRMS GMEB2 ZGPAT SLC2A4RG ARFRP1 PTK6 RTEL1 FNDC11 EEF1A2 ZBTB46 LIME1 RTEL1-TNFRSF6B PPDPF KCNQ2 TNFRSF6B |
More Information
Additional Information:
For this assay, SNP(s) [rs73920935] 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.
Set Membership: |
Intragenic Non-exonic DGV Variation |