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Gene Symbol
OBSCN
Assay Reference Genome
Location

Chr.1:228216539 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00192902_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 Exon 7
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
OBSCN NM_001098623.2 7 2288 NP_001092093.2
NM_001271223.2 7 2288 NP_001258152.2
NM_052843.3 7 2288 NP_443075.3
XM_005273287.4 7 2368 XP_005273344.1
XM_005273291.4 7 2368 XP_005273348.1
XM_005273298.4 7 2368 XP_005273355.1
XM_005273307.4 7 2368 XP_005273364.1
XM_006711822.3 7 2368 XP_006711885.1
XM_006711823.3 7 2368 XP_006711886.1
XM_006711827.3 7 2367 XP_006711890.1
XM_006711829.3 7 2367 XP_006711892.1
XM_011544297.2 7 2368 XP_011542599.1
XM_011544299.2 7 2368 XP_011542601.1
XM_017002443.1 7 2368 XP_016857932.1
XM_017002444.1 7 2331 XP_016857933.1
XM_017002445.1 7 2368 XP_016857934.1
XM_017002446.1 7 2368 XP_016857935.1
XM_017002447.1 7 2368 XP_016857936.1
XM_017002448.1 XP_016857937.1
XM_017002449.1 7 2369 XP_016857938.1
XM_017002450.1 7 2369 XP_016857939.1
XM_017002451.1 7 2369 XP_016857940.1
XM_017002452.1 7 2369 XP_016857941.1
XM_017002453.1 7 2368 XP_016857942.1
XM_017002454.1 7 2368 XP_016857943.1
XM_017002455.1 7 2368 XP_016857944.1
XM_017002456.1 7 2368 XP_016857945.1
XM_017002457.1 7 2368 XP_016857946.1
XM_017002458.1 7 2369 XP_016857947.1
XM_017002459.1 7 2369 XP_016857948.1
XM_017002460.1 7 2369 XP_016857949.1
XM_017002461.1 7 2368 XP_016857950.1
XM_017002462.1 7 2368 XP_016857951.1
XM_017002463.1 7 2368 XP_016857952.1
XM_017002464.1 7 2368 XP_016857953.1
XM_017002465.1 7 2369 XP_016857954.1
XM_017002466.1 7 2369 XP_016857955.1
XM_017002467.1 7 2369 XP_016857956.1
XM_017002468.1 7 2369 XP_016857957.1
XM_017002469.1 7 2369 XP_016857958.1
XM_017002470.1 7 2370 XP_016857959.1
XM_017002471.1 7 2367 XP_016857960.1
XM_017002472.1 7 2367 XP_016857961.1
XM_017002473.1 7 2367 XP_016857962.1
AJ002535.1 7 2285 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 GJC2 GUK1 C1orf145 IBA57-AS1 OBSCN C1orf35 ARF1 MRPL55 MIR3620 IBA57
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain MIR5008 MIR4666A JMJD4 PRSS38 LOC101060022 RNF187 LOC101927401 GJC2 WNT3A GUK1 MIR6742 HIST3H2A OBSCN WNT9A TRIM11 LOC107985355 C1orf145 TRIM17 C1orf35 ARF1 MIR3620 HIST3H2BB LOC105373289 SNAP47 IBA57-AS1 LOC100506571 HIST3H3 MRPL55 IBA57
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain MIR5008 RNA5S2 PRSS38 LOC101060022 LOC101927401 GJC2 GUK1 RNA5S11 DUSP5P1 RNA5S4 TRIM11 TRIM17 RNA5S5 ARF1 RNA5S13 MIR3620 RNA5S12 SNAP47 LOC100506571 RNA5S14 MRPL55 RHOU MIR4666A RNA5S9 JMJD4 RNA5S15 RNF187 LOC105373132 RNA5S10 WNT3A RNA5S16 BTNL10 MIR6742 HIST3H2A OBSCN RNA5S1 WNT9A RNA5S8 RNA5S3 LOC107985355 C1orf145 RNA5S17 C1orf35 HIST3H2BB LOC105373289 IBA57-AS1 HIST3H3 RNA5S7 RNA5S6 IBA57
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss TRIM11 MIR4666A C1orf145 TRIM17 HIST3H2BB LOC101927401 GJC2 GUK1 MIR6742 IBA57-AS1 HIST3H2A OBSCN HIST3H3 IBA57
nsv952138 Chr.1:228207400 - 228217099 on Build GRCh38 Deletion C1orf145 OBSCN
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss MIR5008 MIR4666A LOC101060022 RNF187 LOC101927401 GJC2 WNT3A GUK1 MIR6742 HIST3H2A OBSCN WNT9A TRIM11 LOC107985355 C1orf145 TRIM17 C1orf35 ARF1 MIR3620 HIST3H2BB IBA57-AS1 LOC100506571 HIST3H3 MRPL55 IBA57

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More Information


Additional Information:

For this assay, SNP(s) [rs116554705] 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 Exonic DGV Variation

Panther Classification:

Molecular Function -

immunoglobulin

Gene Ontology Categories:

Function(s) Process(es)


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