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

Chr.1:228176111 on build GRCh38
Cytoband
1q42.13
Assay ID Hs00777799_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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 1678 NP_001010867.1
NM_001310327.1 3 1389 NP_001297256.1
AK022796.1 4 3705

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

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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