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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228217332 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00228795_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:

 Overlaps Exon 8 - Intron 8
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 MIR4666A LOC101060022 GJC2 PRSS38 HIST3H2BB HIST3H2A IBA57 IBA57-AS1 TRIM17 LOC107985355 MRPL55 LOC105373289 RNF187 HIST3H3 JMJD4 WNT3A MIR3620 C1orf35 MIR6742 C1orf145 TRIM11 WNT9A LOC100506571 LOC101927401 GUK1 MIR5008 ARF1 SNAP47 OBSCN
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion C1orf35 IBA57-AS1 C1orf145 GUK1 ARF1 MRPL55 GJC2 OBSCN MIR3620 IBA57
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S8 RHOU GJC2 HIST3H2BB RNA5S5 RNA5S6 LOC105373289 RNA5S9 BTNL10 RNA5S1 RNA5S13 C1orf145 TRIM11 RNA5S15 LOC100506571 RNA5S17 GUK1 RNA5S16 OBSCN RNA5S11 RNA5S12 MIR4666A LOC101060022 RNA5S4 PRSS38 HIST3H2A IBA57 IBA57-AS1 RNA5S10 LOC105373132 RNA5S14 TRIM17 LOC107985355 MRPL55 RNF187 HIST3H3 JMJD4 WNT3A RNA5S2 MIR3620 C1orf35 DUSP5P1 MIR6742 RNA5S3 RNA5S7 WNT9A LOC101927401 MIR5008 ARF1 SNAP47
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss MIR6742 C1orf145 TRIM11 MIR4666A GJC2 HIST3H2BB HIST3H2A IBA57 LOC101927401 IBA57-AS1 GUK1 TRIM17 HIST3H3 OBSCN
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss MIR4666A LOC101060022 GJC2 HIST3H2BB HIST3H2A IBA57 IBA57-AS1 TRIM17 LOC107985355 MRPL55 RNF187 HIST3H3 WNT3A MIR3620 C1orf35 MIR6742 C1orf145 TRIM11 WNT9A LOC100506571 LOC101927401 GUK1 MIR5008 ARF1 OBSCN

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More Information


Additional Information:

For this assay, SNP(s) [rs115777899] 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 Non-exonic DGV Variation

Panther Classification:

Molecular Function -

immunoglobulin

Gene Ontology Categories:

Function(s) Process(es)


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