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

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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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