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

Chr.1:228175997 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03032945_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 1564 NP_001010867.1
NM_001310327.1 3 1275 NP_001297256.1
AK022796.1 4 3591

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