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

Chr.1:228177026 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00395155_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 2593 NP_001010867.1
NM_001310327.1 3 2304 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 GUK1 IBA57-AS1 GJC2
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion IBA57 GUK1 ARF1 IBA57-AS1 C1orf145 MRPL55 MIR3620 C1orf35 OBSCN GJC2
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain IBA57-AS1 LOC107985355 MIR3620 HIST3H2BB SNAP47 HIST3H2A WNT3A LOC105373289 MRPL55 LOC101927401 C1orf35 MIR5008 MIR4666A GUK1 ARF1 WNT9A LOC101060022 MIR6742 TRIM11 IBA57 LOC100506571 HIST3H3 C1orf145 TRIM17 RNF187 OBSCN JMJD4 GJC2 PRSS38
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain IBA57-AS1 LOC107985355 HIST3H2BB RNA5S8 RNA5S3 RNA5S17 RNA5S6 RNA5S4 RNA5S11 HIST3H2A WNT3A RNA5S7 C1orf35 MIR4666A RNA5S13 ARF1 MIR6742 RNA5S1 IBA57 LOC100506571 HIST3H3 RNA5S5 RHOU OBSCN GJC2 LOC105373132 RNA5S14 MIR3620 RNA5S9 DUSP5P1 SNAP47 LOC105373289 MRPL55 LOC101927401 RNA5S2 MIR5008 RNA5S15 BTNL10 GUK1 WNT9A LOC101060022 RNA5S12 TRIM11 RNA5S16 C1orf145 TRIM17 RNF187 JMJD4 RNA5S10 PRSS38
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss GUK1 IBA57-AS1 HIST3H2BB MIR6742 TRIM11 IBA57 HIST3H2A HIST3H3 C1orf145 LOC101927401 TRIM17 OBSCN GJC2 MIR4666A
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss IBA57-AS1 LOC107985355 MIR3620 HIST3H2BB HIST3H2A WNT3A MRPL55 LOC101927401 C1orf35 MIR5008 MIR4666A GUK1 ARF1 WNT9A LOC101060022 MIR6742 TRIM11 IBA57 LOC100506571 HIST3H3 C1orf145 TRIM17 RNF187 OBSCN GJC2
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss IBA57 GUK1 IBA57-AS1 GJC2

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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