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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228227087 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03347361_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 10
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
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion C1orf35 ARF1 IBA57-AS1 GJC2 C1orf145 MIR3620 OBSCN GUK1 IBA57 MRPL55
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain MIR6742 ARF1 IBA57-AS1 WNT3A HIST3H3 WNT9A OBSCN LOC101060022 MIR4666A LOC100506571 HIST3H2BB LOC101927401 MRPL55 SNAP47 GJC2 LOC107985355 MIR5008 C1orf145 MIR3620 GUK1 RNF187 C1orf35 TRIM17 JMJD4 LOC105373289 PRSS38 HIST3H2A IBA57 TRIM11
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain MIR6742 ARF1 RNA5S15 OBSCN MIR4666A RNA5S5 LOC100506571 HIST3H2BB RNA5S8 RNA5S7 RNA5S13 LOC105373132 SNAP47 GJC2 LOC107985355 RNA5S6 MIR5008 RNA5S1 C1orf145 RNA5S9 RNF187 C1orf35 LOC105373289 PRSS38 HIST3H2A TRIM11 RNA5S11 IBA57-AS1 RNA5S10 WNT3A BTNL10 HIST3H3 RHOU WNT9A LOC101060022 RNA5S4 RNA5S17 RNA5S2 RNA5S3 LOC101927401 RNA5S12 MRPL55 RNA5S14 DUSP5P1 RNA5S16 MIR3620 GUK1 TRIM17 JMJD4 IBA57
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss MIR6742 IBA57-AS1 GJC2 HIST3H3 C1orf145 OBSCN GUK1 TRIM17 MIR4666A HIST3H2BB HIST3H2A LOC101927401 IBA57 TRIM11
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss MIR6742 ARF1 IBA57-AS1 WNT3A HIST3H3 WNT9A OBSCN LOC101060022 MIR4666A LOC100506571 HIST3H2BB LOC101927401 MRPL55 GJC2 LOC107985355 MIR5008 C1orf145 MIR3620 GUK1 RNF187 C1orf35 TRIM17 HIST3H2A IBA57 TRIM11

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More Information


Additional Information:

For this assay, SNP(s) [rs75747823] 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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