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 Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RRP1 | NM_003683.5 | 1 | 177 | NP_003674.1 |
XM_017028485.1 | 1 | 168 | XP_016883974.1 | |
XM_017028486.1 | 1 | 163 | XP_016883975.1 | |
AK223185.1 | 1 | 138 | BAD96905.1 | |
AK223215.1 | 1 | 134 | BAD96935.1 | |
AK303000.1 | 1 | 137 | ||
AK313116.1 | 1 | 134 | ||
BC000380.2 | 1 | 124 | AAH00380.1 | |
BC014787.1 | 1 | 99 | AAH14787.2 | |
DA275615.1 | 1 | 179 | ||
U79775.1 | 1 | 122 | AAC51625.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv509799 | Chr.21:43724009 - 43852846 on Build GRCh38 | Insertion | LOC105372824 CSTB RRP1 AATBC PDXK |
nsv834108 | Chr.21:43758156 - 43949760 on Build GRCh38 | Loss | CSTB RRP1 AATBC AGPAT3 PDXK |
nsv834107 | Chr.21:43735444 - 43874665 on Build GRCh38 | Loss | LOC105372824 CSTB RRP1 AATBC AGPAT3 PDXK |
nsv953642 | Chr.21:43731220 - 43827719 on Build GRCh38 | Deletion | LOC105372824 CSTB RRP1 AATBC PDXK |
nsv470904 | Chr.21:43731164 - 43838166 on Build GRCh38 | Loss | LOC105372824 CSTB RRP1 AATBC PDXK |
nsv520305 | Chr.21:43756077 - 43826445 on Build GRCh38 | Loss | CSTB RRP1 AATBC PDXK |
esv33817 | Chr.21:43749531 - 44647625 on Build GRCh38 | Loss | KRTAP10-4 C21orf2 LOC105372833 KRTAP10-11 KRTAP10-8 AGPAT3 C21orf33 TSPEAR-AS1 CSTB KRTAP10-1 DNMT3L LRRC3 KRTAP10-7 AATBC TRAPPC10 PDXK AIRE LRRC3-AS1 TSPEAR-AS2 KRTAP10-6 PFKL KRTAP10-9 TRPM2-AS KRTAP10-3 LOC100505727 ICOSLG KRTAP10-5 RRP1 TSPEAR TRPM2 KRTAP10-2 KRTAP10-10 PWP2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |