Assay Details
Target Gene Details
Entrez Gene ID: | 84033 |
Gene Name: | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
Gene Aliases: |
ARHGEF30, UNC89 |
Location: |
Chr.1:228208013-228381431 on Build GRCh38 |
Assay Gene Location: | Within Intron 10 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1160102 | Chr.1:228081212 - 228239280 on Build GRCh38 | Deletion | C1orf35 ARF1 IBA57-AS1 GJC2 C1orf145 MIR3620 OBSCN GUK1 IBA57 MRPL55 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | MIR6742 ARF1 IBA57-AS1 WNT3A HIST3H3 WNT9A OBSCN LOC101060022 MIR4666A LOC100506571 HIST3H2BB LOC101927401 MRPL55 SNAP47 GJC2 LOC107985355 MIR5008 C1orf145 MIR3620 GUK1 RNF187 C1orf35 TRIM17 JMJD4 LOC105373289 PRSS38 HIST3H2A IBA57 TRIM11 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | MIR6742 ARF1 RNA5S15 OBSCN MIR4666A RNA5S5 LOC100506571 HIST3H2BB RNA5S8 RNA5S7 RNA5S13 LOC105373132 SNAP47 GJC2 LOC107985355 RNA5S6 MIR5008 RNA5S1 C1orf145 RNA5S9 RNF187 C1orf35 LOC105373289 PRSS38 HIST3H2A TRIM11 RNA5S11 IBA57-AS1 RNA5S10 WNT3A BTNL10 HIST3H3 RHOU WNT9A LOC101060022 RNA5S4 RNA5S17 RNA5S2 RNA5S3 LOC101927401 RNA5S12 MRPL55 RNA5S14 DUSP5P1 RNA5S16 MIR3620 GUK1 TRIM17 JMJD4 IBA57 |
nsv827019 | Chr.1:228126466 - 228463319 on Build GRCh38 | Loss | MIR6742 IBA57-AS1 GJC2 HIST3H3 C1orf145 OBSCN GUK1 TRIM17 MIR4666A HIST3H2BB HIST3H2A LOC101927401 IBA57 TRIM11 |
nsv523935 | Chr.1:227850423 - 228494048 on Build GRCh38 | Loss | MIR6742 ARF1 IBA57-AS1 WNT3A HIST3H3 WNT9A OBSCN LOC101060022 MIR4666A LOC100506571 HIST3H2BB LOC101927401 MRPL55 GJC2 LOC107985355 MIR5008 C1orf145 MIR3620 GUK1 RNF187 C1orf35 TRIM17 HIST3H2A IBA57 TRIM11 |
More Information
Additional Information:
For this assay, SNP(s) [rs75747823] 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 |