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

Chr.1:228175619 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00545793_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 1186 NP_001010867.1
NM_001310327.1 3 897 NP_001297256.1
AK022796.1 4 3213

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

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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