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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228222251 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03362104_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 Intron 9
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
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain JMJD4 MIR3620 MIR5008 LOC105373289 LOC101060022 RNF187 LOC101927401 TRIM17 GUK1 MRPL55 OBSCN SNAP47 C1orf145 MIR4666A IBA57-AS1 IBA57 WNT3A PRSS38 HIST3H2BB LOC100506571 WNT9A HIST3H2A TRIM11 ARF1 GJC2 HIST3H3 MIR6742 C1orf35 LOC107985355
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion ARF1 MIR3620 GJC2 GUK1 MRPL55 OBSCN C1orf145 C1orf35 IBA57-AS1 IBA57
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain BTNL10 RNA5S3 RNA5S13 MIR5008 RNA5S14 RNA5S16 LOC101060022 LOC105373132 TRIM17 GUK1 MRPL55 SNAP47 C1orf145 IBA57 WNT3A PRSS38 HIST3H2BB HIST3H2A TRIM11 DUSP5P1 ARF1 RNA5S11 GJC2 RNA5S9 RNA5S1 RHOU HIST3H3 MIR6742 RNA5S6 JMJD4 MIR3620 RNA5S15 RNA5S17 LOC105373289 RNF187 LOC101927401 OBSCN RNA5S7 RNA5S12 MIR4666A IBA57-AS1 RNA5S10 RNA5S2 LOC100506571 WNT9A RNA5S5 RNA5S8 C1orf35 LOC107985355 RNA5S4
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss HIST3H2BB HIST3H2A TRIM11 GJC2 LOC101927401 TRIM17 GUK1 OBSCN HIST3H3 C1orf145 MIR6742 MIR4666A IBA57-AS1 IBA57
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss MIR3620 MIR5008 LOC101060022 RNF187 LOC101927401 TRIM17 GUK1 MRPL55 OBSCN C1orf145 MIR4666A IBA57-AS1 IBA57 WNT3A HIST3H2BB LOC100506571 WNT9A HIST3H2A TRIM11 ARF1 GJC2 HIST3H3 MIR6742 C1orf35 LOC107985355

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More Information


Additional Information:

For this assay, SNP(s) [rs146306568] 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

Panther Classification:

Molecular Function -

immunoglobulin

Gene Ontology Categories:

Function(s) Process(es)


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