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

Chr.1:228175214 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01942268_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 3 781 NP_001010867.1
NM_001310327.1 3 492 NP_001297256.1
AK022796.1 4 2808
AK303837.1 3 492
BI820993.1 3 521

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

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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