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

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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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