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

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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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