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

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