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See other IBA57 CNV Assays ›
Gene Symbol
IBA57
Assay Reference Genome
Location

Chr.1:228176482 on build GRCh38
Cytoband
1q42.13
Assay ID Hs02937759_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 200205

Gene Name:

 IBA57 homolog, iron-sulfur cluster assembly

Gene Aliases:

 C1orf69, MMDS3, SPG74

Location:

 Chr.1:228165808-228182257 on Build GRCh38

Assay Gene Location:

 Within Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
IBA57 NM_001010867.3 3 2049 NP_001010867.1
NM_001310327.1 3 1760 NP_001297256.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv952137 Chr.1:228140600 - 228182899 on Build GRCh38 Deletion IBA57 GJC2 IBA57-AS1 GUK1
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion MRPL55 IBA57 GJC2 OBSCN C1orf145 IBA57-AS1 ARF1 MIR3620 C1orf35 GUK1
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain MIR6742 IBA57 GJC2 MIR5008 HIST3H3 LOC101060022 MIR4666A LOC101927401 TRIM17 GUK1 MRPL55 SNAP47 C1orf145 WNT9A LOC100506571 JMJD4 LOC105373289 PRSS38 RNF187 IBA57-AS1 MIR3620 C1orf35 WNT3A HIST3H2BB LOC107985355 OBSCN HIST3H2A TRIM11 ARF1
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain MIR6742 IBA57 RNA5S6 MIR5008 LOC101060022 MIR4666A RHOU SNAP47 RNA5S10 RNA5S5 RNA5S1 JMJD4 PRSS38 RNA5S16 RNF187 RNA5S9 RNA5S8 RNA5S4 BTNL10 WNT3A RNA5S15 LOC107985355 RNA5S11 GJC2 HIST3H3 RNA5S2 LOC101927401 TRIM17 GUK1 MRPL55 RNA5S14 DUSP5P1 C1orf145 LOC105373132 WNT9A RNA5S7 RNA5S17 RNA5S13 LOC100506571 LOC105373289 RNA5S12 IBA57-AS1 MIR3620 C1orf35 HIST3H2BB OBSCN HIST3H2A TRIM11 ARF1 RNA5S3
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss MIR6742 IBA57 GJC2 HIST3H3 MIR4666A IBA57-AS1 LOC101927401 TRIM17 GUK1 HIST3H2BB OBSCN HIST3H2A C1orf145 TRIM11
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss MIR6742 IBA57 GJC2 MIR5008 HIST3H3 LOC101060022 MIR4666A LOC101927401 TRIM17 GUK1 MRPL55 C1orf145 WNT9A LOC100506571 RNF187 IBA57-AS1 MIR3620 C1orf35 WNT3A HIST3H2BB LOC107985355 OBSCN HIST3H2A TRIM11 ARF1
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss IBA57 GJC2 IBA57-AS1 GUK1

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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