Assay Details
Target Gene Details
Entrez Gene ID: | 8568 |
Gene Name: | ribosomal RNA processing 1 |
Gene Aliases: |
D21S2056E, NNP-1, NOP52, RRP1A |
Location: |
Chr.21:43789537-43804102 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RRP1 | NM_003683.5 | NP_003674.1 | ||
XM_017028485.1 | XP_016883974.1 | |||
XM_017028486.1 | XP_016883975.1 | |||
AK223185.1 | BAD96905.1 | |||
AK223215.1 | BAD96935.1 | |||
AK303000.1 | ||||
AK313116.1 | ||||
AL137757.1 | CAB70909.1 | |||
AY033999.1 | AAK57542.1 | |||
BC000380.2 | AAH00380.1 | |||
BC014787.1 | AAH14787.2 | |||
BI223794.1 | ||||
U79775.1 | AAC51625.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv587718 | Chr.21:43791051 - 43832957 on Build GRCh38 | Loss | RRP1 AATBC |
nsv509799 | Chr.21:43724009 - 43852846 on Build GRCh38 | Insertion | PDXK RRP1 CSTB AATBC LOC105372824 |
nsv834108 | Chr.21:43758156 - 43949760 on Build GRCh38 | Loss | PDXK RRP1 CSTB AATBC AGPAT3 |
nsv587719 | Chr.21:43798559 - 43849960 on Build GRCh38 | Loss | RRP1 AATBC |
nsv834107 | Chr.21:43735444 - 43874665 on Build GRCh38 | Loss | PDXK RRP1 CSTB AATBC AGPAT3 LOC105372824 |
nsv953642 | Chr.21:43731220 - 43827719 on Build GRCh38 | Deletion | PDXK RRP1 CSTB AATBC LOC105372824 |
nsv470904 | Chr.21:43731164 - 43838166 on Build GRCh38 | Loss | PDXK RRP1 CSTB AATBC LOC105372824 |
nsv520305 | Chr.21:43756077 - 43826445 on Build GRCh38 | Loss | PDXK RRP1 CSTB AATBC |
esv33817 | Chr.21:43749531 - 44647625 on Build GRCh38 | Loss | RRP1 ICOSLG C21orf33 KRTAP10-4 AIRE TRPM2 KRTAP10-8 PDXK PWP2 LOC100505727 TSPEAR-AS2 CSTB LOC105372833 C21orf2 DNMT3L KRTAP10-3 LRRC3 KRTAP10-1 KRTAP10-6 AATBC AGPAT3 TSPEAR-AS1 KRTAP10-5 TSPEAR KRTAP10-2 TRAPPC10 KRTAP10-9 LRRC3-AS1 KRTAP10-7 TRPM2-AS KRTAP10-10 PFKL KRTAP10-11 |
More Information
Additional Information:
For this assay, SNP(s) [rs200831669,rs566016022] 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 Intronic Non-exonic DGV Variation |