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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228215613 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01176717_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 6
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
OBSCN NM_001098623.2 6 1953 NP_001092093.2
NM_001271223.2 6 1953 NP_001258152.2
NM_052843.3 6 1953 NP_443075.3
XM_005273287.4 6 2033 XP_005273344.1
XM_005273291.4 6 2033 XP_005273348.1
XM_005273298.4 6 2033 XP_005273355.1
XM_005273307.4 6 2033 XP_005273364.1
XM_006711822.3 6 2033 XP_006711885.1
XM_006711823.3 6 2033 XP_006711886.1
XM_006711827.3 6 2032 XP_006711890.1
XM_006711829.3 6 2032 XP_006711892.1
XM_011544297.2 6 2033 XP_011542599.1
XM_011544299.2 6 2033 XP_011542601.1
XM_017002443.1 6 2033 XP_016857932.1
XM_017002444.1 6 1996 XP_016857933.1
XM_017002445.1 6 2033 XP_016857934.1
XM_017002446.1 6 2033 XP_016857935.1
XM_017002447.1 6 2033 XP_016857936.1
XM_017002448.1 6 2033 XP_016857937.1
XM_017002449.1 6 2034 XP_016857938.1
XM_017002450.1 6 2034 XP_016857939.1
XM_017002451.1 6 2034 XP_016857940.1
XM_017002452.1 6 2034 XP_016857941.1
XM_017002453.1 6 2033 XP_016857942.1
XM_017002454.1 6 2033 XP_016857943.1
XM_017002455.1 6 2033 XP_016857944.1
XM_017002456.1 6 2033 XP_016857945.1
XM_017002457.1 6 2033 XP_016857946.1
XM_017002458.1 6 2034 XP_016857947.1
XM_017002459.1 6 2034 XP_016857948.1
XM_017002460.1 6 2034 XP_016857949.1
XM_017002461.1 6 2033 XP_016857950.1
XM_017002462.1 6 2033 XP_016857951.1
XM_017002463.1 6 2033 XP_016857952.1
XM_017002464.1 6 2033 XP_016857953.1
XM_017002465.1 6 2034 XP_016857954.1
XM_017002466.1 6 2034 XP_016857955.1
XM_017002467.1 6 2034 XP_016857956.1
XM_017002468.1 6 2034 XP_016857957.1
XM_017002469.1 6 2034 XP_016857958.1
XM_017002470.1 6 2035 XP_016857959.1
XM_017002471.1 6 2032 XP_016857960.1
XM_017002472.1 6 2032 XP_016857961.1
XM_017002473.1 6 2032 XP_016857962.1
AJ002535.1 6 1950 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 ARF1 OBSCN C1orf145 GJC2 C1orf35 MIR3620 IBA57-AS1 MRPL55 GUK1 IBA57
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain MIR5008 MIR6742 LOC107985355 TRIM17 LOC101060022 LOC100506571 C1orf35 C1orf145 HIST3H3 LOC101927401 PRSS38 RNF187 ARF1 OBSCN WNT3A LOC105373289 GJC2 HIST3H2A MIR4666A MRPL55 GUK1 IBA57 HIST3H2BB WNT9A SNAP47 JMJD4 TRIM11 MIR3620 IBA57-AS1
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain MIR6742 LOC107985355 TRIM17 LOC100506571 RNA5S5 RHOU LOC101927401 BTNL10 RNA5S4 RNF187 ARF1 OBSCN WNT3A RNA5S16 RNA5S17 HIST3H2A MIR4666A GUK1 RNA5S11 RNA5S10 IBA57 RNA5S12 WNT9A RNA5S3 DUSP5P1 SNAP47 LOC105373132 RNA5S9 MIR5008 RNA5S1 LOC101060022 C1orf35 RNA5S8 C1orf145 HIST3H3 RNA5S13 PRSS38 RNA5S14 RNA5S6 RNA5S15 LOC105373289 GJC2 MRPL55 RNA5S7 HIST3H2BB JMJD4 RNA5S2 TRIM11 MIR3620 IBA57-AS1
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss OBSCN MIR6742 TRIM17 GJC2 HIST3H2A MIR4666A GUK1 IBA57 HIST3H2BB C1orf145 HIST3H3 LOC101927401 TRIM11 IBA57-AS1
nsv952138 Chr.1:228207400 - 228217099 on Build GRCh38 Deletion OBSCN C1orf145
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss MIR5008 MIR6742 LOC107985355 TRIM17 LOC101060022 LOC100506571 C1orf35 C1orf145 HIST3H3 LOC101927401 RNF187 ARF1 OBSCN WNT3A GJC2 HIST3H2A MIR4666A MRPL55 GUK1 IBA57 HIST3H2BB WNT9A TRIM11 MIR3620 IBA57-AS1

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