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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228215048 on build GRCh38
Cytoband
1q42.13
Assay ID Hs02007188_cn
Size
Availability Made To Order
Catalog # 4400291
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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 Exon 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
OBSCN NM_001098623.2 5 1852 NP_001092093.2
NM_001271223.2 5 1852 NP_001258152.2
NM_052843.3 5 1852 NP_443075.3
XM_005273287.4 5 1932 XP_005273344.1
XM_005273291.4 5 1932 XP_005273348.1
XM_005273298.4 5 1932 XP_005273355.1
XM_005273307.4 5 1932 XP_005273364.1
XM_006711822.3 5 1932 XP_006711885.1
XM_006711823.3 5 1932 XP_006711886.1
XM_006711827.3 5 1931 XP_006711890.1
XM_006711829.3 5 1931 XP_006711892.1
XM_011544297.2 5 1932 XP_011542599.1
XM_011544299.2 5 1932 XP_011542601.1
XM_017002443.1 5 1932 XP_016857932.1
XM_017002444.1 5 1895 XP_016857933.1
XM_017002445.1 5 1932 XP_016857934.1
XM_017002446.1 5 1932 XP_016857935.1
XM_017002447.1 5 1932 XP_016857936.1
XM_017002448.1 5 1932 XP_016857937.1
XM_017002449.1 5 1933 XP_016857938.1
XM_017002450.1 5 1933 XP_016857939.1
XM_017002451.1 5 1933 XP_016857940.1
XM_017002452.1 5 1933 XP_016857941.1
XM_017002453.1 5 1932 XP_016857942.1
XM_017002454.1 5 1932 XP_016857943.1
XM_017002455.1 5 1932 XP_016857944.1
XM_017002456.1 5 1932 XP_016857945.1
XM_017002457.1 5 1932 XP_016857946.1
XM_017002458.1 5 1933 XP_016857947.1
XM_017002459.1 5 1933 XP_016857948.1
XM_017002460.1 5 1933 XP_016857949.1
XM_017002461.1 5 1932 XP_016857950.1
XM_017002462.1 5 1932 XP_016857951.1
XM_017002463.1 5 1932 XP_016857952.1
XM_017002464.1 5 1932 XP_016857953.1
XM_017002465.1 5 1933 XP_016857954.1
XM_017002466.1 5 1933 XP_016857955.1
XM_017002467.1 5 1933 XP_016857956.1
XM_017002468.1 5 1933 XP_016857957.1
XM_017002469.1 5 1933 XP_016857958.1
XM_017002470.1 5 1934 XP_016857959.1
XM_017002471.1 5 1931 XP_016857960.1
XM_017002472.1 5 1931 XP_016857961.1
XM_017002473.1 5 1931 XP_016857962.1
AJ002535.1 5 1849 CAC44768.1

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 MRPL55 IBA57 C1orf35 C1orf145 MIR3620 ARF1 GUK1 IBA57-AS1 OBSCN GJC2
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain LOC101060022 LOC100506571 LOC107985355 PRSS38 HIST3H3 MIR6742 TRIM17 IBA57-AS1 OBSCN WNT3A IBA57 C1orf145 MIR4666A MIR3620 ARF1 HIST3H2A RNF187 MRPL55 HIST3H2BB MIR5008 JMJD4 SNAP47 WNT9A C1orf35 LOC105373289 LOC101927401 TRIM11 GUK1 GJC2
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain LOC101060022 LOC100506571 LOC107985355 HIST3H3 RNA5S9 IBA57-AS1 WNT3A RNA5S15 RNA5S8 RNA5S3 C1orf145 LOC105373132 RNA5S7 ARF1 MRPL55 MIR5008 RNA5S1 RNA5S5 SNAP47 LOC105373289 LOC101927401 TRIM11 DUSP5P1 PRSS38 RNA5S6 MIR6742 RNA5S2 TRIM17 OBSCN RHOU IBA57 RNA5S17 RNA5S4 MIR4666A RNA5S10 MIR3620 RNA5S16 HIST3H2A RNF187 HIST3H2BB RNA5S11 JMJD4 RNA5S12 RNA5S13 RNA5S14 WNT9A C1orf35 BTNL10 GUK1 GJC2
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss HIST3H2BB HIST3H3 MIR6742 TRIM17 IBA57-AS1 OBSCN IBA57 C1orf145 LOC101927401 MIR4666A TRIM11 GUK1 HIST3H2A GJC2
nsv952138 Chr.1:228207400 - 228217099 on Build GRCh38 Deletion C1orf145 OBSCN
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss LOC101060022 LOC100506571 LOC107985355 HIST3H3 MIR6742 TRIM17 IBA57-AS1 OBSCN WNT3A IBA57 C1orf145 MIR4666A MIR3620 ARF1 HIST3H2A RNF187 MRPL55 HIST3H2BB MIR5008 WNT9A C1orf35 LOC101927401 TRIM11 GUK1 GJC2

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