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

Chr.1:228178670 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00987184_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 4237 NP_001010867.1
NM_001310327.1 3 3948 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 IBA57-AS1 GJC2 GUK1
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion IBA57 OBSCN C1orf145 C1orf35 ARF1 MIR3620 IBA57-AS1 GJC2 GUK1 MRPL55
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain IBA57 MIR6742 RNF187 HIST3H2A C1orf35 LOC107985355 TRIM11 TRIM17 LOC101060022 GUK1 MRPL55 LOC101927401 LOC100506571 HIST3H2BB JMJD4 WNT3A ARF1 IBA57-AS1 SNAP47 HIST3H3 PRSS38 C1orf145 WNT9A MIR3620 LOC105373289 GJC2 OBSCN MIR4666A MIR5008
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain HIST3H2A C1orf35 LOC107985355 TRIM11 RNA5S17 TRIM17 RNA5S16 MRPL55 DUSP5P1 RNA5S15 HIST3H2BB ARF1 IBA57-AS1 HIST3H3 C1orf145 WNT9A MIR3620 RNA5S12 RNA5S6 RNA5S11 OBSCN LOC105373132 RNA5S14 IBA57 MIR6742 RNF187 RNA5S9 RNA5S7 LOC101060022 GUK1 RNA5S4 LOC101927401 LOC100506571 JMJD4 WNT3A RNA5S1 RNA5S13 SNAP47 BTNL10 PRSS38 RHOU LOC105373289 RNA5S5 RNA5S8 GJC2 RNA5S10 RNA5S2 MIR4666A MIR5008 RNA5S3
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss IBA57 C1orf145 MIR6742 HIST3H2A TRIM11 GJC2 TRIM17 GUK1 LOC101927401 OBSCN HIST3H2BB MIR4666A IBA57-AS1 HIST3H3
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss IBA57 MIR6742 RNF187 HIST3H2A C1orf35 LOC107985355 TRIM11 TRIM17 LOC101060022 GUK1 MRPL55 LOC101927401 LOC100506571 HIST3H2BB WNT3A ARF1 IBA57-AS1 HIST3H3 C1orf145 WNT9A MIR3620 GJC2 OBSCN MIR4666A MIR5008
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss IBA57 IBA57-AS1 GJC2 GUK1

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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