Assay Details
Target Gene Details
Entrez Gene ID: | 255762 |
Gene Name: | PDZ domain containing 9 |
Gene Aliases: |
C16orf65 |
Location: |
Chr.16:21957540-22001137 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PDZD9 | XM_011545785.2 | XP_011544087.1 | ||
XM_017023109.1 | XP_016878598.1 | |||
XM_017023110.1 | XP_016878599.1 |
Target Gene Details
Entrez Gene ID: | 7385 |
Gene Name: | ubiquinol-cytochrome c reductase core protein II |
Gene Aliases: |
MC3DN5, QCR2, UQCR2 |
Location: |
Chr.16:21953064-21983660 on Build GRCh38 |
Assay Gene Location: | Within Intron 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UQCRC2 | NM_003366.3 | NP_003357.2 | ||
AK093106.1 | ||||
AK094006.1 | ||||
BC000484.2 | AAH00484.1 | |||
BC003136.1 | AAH03136.1 | |||
J04973.1 | AAA35710.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv34235 | Chr.16:21276264 - 21986230 on Build GRCh38 | Gain | OTOA MIR3680-1 IGSF6 UQCRC2 RRN3P1 NPIPB4 METTL9 NPIPB3 LOC100190986 SNX29P1 SLC7A5P2 PDZD9 CRYM-AS1 CRYM LOC101927814 SMG1P3 |
nsv1048054 | Chr.16:21952632 - 21994369 on Build GRCh38 | Gain | PDZD9 UQCRC2 |
nsv428322 | Chr.16:21489241 - 22017793 on Build GRCh38 | Gain | C16orf52 OTOA SLC7A5P2 PDZD9 MIR3680-1 IGSF6 UQCRC2 RRN3P1 NPIPB4 METTL9 LOC101927814 SMG1P3 |
esv3638193 | Chr.16:21934532 - 22029031 on Build GRCh38 | Gain | C16orf52 PDZD9 UQCRC2 |
esv34544 | Chr.16:21522978 - 21986230 on Build GRCh38 | Gain | OTOA PDZD9 IGSF6 UQCRC2 RRN3P1 NPIPB4 METTL9 LOC101927814 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |