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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228214188 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00695770_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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:

 Overlaps Intron 3 - Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
OBSCN NM_001098623.2 NP_001092093.2
NM_001271223.2 NP_001258152.2
NM_052843.3 NP_443075.3
XM_005273287.4 XP_005273344.1
XM_005273291.4 XP_005273348.1
XM_005273298.4 XP_005273355.1
XM_005273307.4 XP_005273364.1
XM_006711822.3 XP_006711885.1
XM_006711823.3 XP_006711886.1
XM_006711827.3 XP_006711890.1
XM_006711829.3 XP_006711892.1
XM_011544297.2 XP_011542599.1
XM_011544299.2 XP_011542601.1
XM_017002443.1 XP_016857932.1
XM_017002444.1 XP_016857933.1
XM_017002445.1 XP_016857934.1
XM_017002446.1 XP_016857935.1
XM_017002447.1 XP_016857936.1
XM_017002448.1 XP_016857937.1
XM_017002449.1 XP_016857938.1
XM_017002450.1 XP_016857939.1
XM_017002451.1 XP_016857940.1
XM_017002452.1 XP_016857941.1
XM_017002453.1 XP_016857942.1
XM_017002454.1 XP_016857943.1
XM_017002455.1 XP_016857944.1
XM_017002456.1 XP_016857945.1
XM_017002457.1 XP_016857946.1
XM_017002458.1 XP_016857947.1
XM_017002459.1 XP_016857948.1
XM_017002460.1 XP_016857949.1
XM_017002461.1 XP_016857950.1
XM_017002462.1 XP_016857951.1
XM_017002463.1 XP_016857952.1
XM_017002464.1 XP_016857953.1
XM_017002465.1 XP_016857954.1
XM_017002466.1 XP_016857955.1
XM_017002467.1 XP_016857956.1
XM_017002468.1 XP_016857957.1
XM_017002469.1 XP_016857958.1
XM_017002470.1 XP_016857959.1
XM_017002471.1 XP_016857960.1
XM_017002472.1 XP_016857961.1
XM_017002473.1 XP_016857962.1
AJ002535.1 CAC44768.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1143478 Chr.1:228212799 - 228214299 on Build GRCh38 Deletion C1orf145 OBSCN
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain MRPL55 MIR5008 RNF187 MIR4666A JMJD4 OBSCN GUK1 WNT3A TRIM11 C1orf145 ARF1 MIR6742 LOC107985355 LOC100506571 MIR3620 SNAP47 TRIM17 PRSS38 WNT9A GJC2 HIST3H3 LOC105373289 C1orf35 LOC101060022 IBA57 LOC101927401 HIST3H2A IBA57-AS1 HIST3H2BB
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion GUK1 MRPL55 C1orf35 MIR3620 IBA57 C1orf145 ARF1 IBA57-AS1 GJC2 OBSCN
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain MIR4666A DUSP5P1 JMJD4 OBSCN RNA5S1 WNT3A RNA5S10 RNA5S16 LOC107985355 LOC100506571 TRIM17 RNA5S3 GJC2 RNA5S6 IBA57 RNA5S13 RNA5S15 LOC101927401 RNA5S4 IBA57-AS1 MRPL55 MIR5008 RNA5S14 RNA5S2 RNF187 RHOU GUK1 RNA5S5 RNA5S7 TRIM11 C1orf145 RNA5S12 ARF1 MIR6742 RNA5S17 MIR3620 SNAP47 PRSS38 LOC105373132 WNT9A RNA5S11 HIST3H3 BTNL10 LOC105373289 C1orf35 LOC101060022 RNA5S8 HIST3H2A HIST3H2BB RNA5S9
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss MIR4666A TRIM17 GJC2 OBSCN HIST3H3 GUK1 IBA57 LOC101927401 TRIM11 C1orf145 HIST3H2A IBA57-AS1 HIST3H2BB MIR6742
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss MRPL55 MIR5008 RNF187 MIR4666A OBSCN GUK1 WNT3A TRIM11 C1orf145 ARF1 MIR6742 LOC107985355 LOC100506571 MIR3620 TRIM17 WNT9A GJC2 HIST3H3 C1orf35 LOC101060022 IBA57 LOC101927401 HIST3H2A IBA57-AS1 HIST3H2BB
nsv952138 Chr.1:228207400 - 228217099 on Build GRCh38 Deletion C1orf145 OBSCN

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