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

Chr.1:228177321 on build GRCh38
Cytoband
1q42.13
Assay ID Hs02156785_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 2888 NP_001010867.1
NM_001310327.1 3 2599 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-AS1 GUK1 IBA57 GJC2
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion IBA57-AS1 MRPL55 C1orf35 GUK1 C1orf145 OBSCN MIR3620 ARF1 IBA57 GJC2
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain SNAP47 C1orf35 LOC101927401 RNF187 IBA57 TRIM17 MIR4666A LOC100506571 LOC101060022 MIR5008 MIR3620 JMJD4 GJC2 MRPL55 HIST3H2A HIST3H3 LOC105373289 OBSCN PRSS38 WNT9A HIST3H2BB LOC107985355 IBA57-AS1 TRIM11 MIR6742 GUK1 C1orf145 ARF1 WNT3A
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S15 RNA5S10 RNA5S11 RNA5S12 IBA57 RNA5S1 RNA5S7 MIR4666A RNA5S14 RNA5S3 RNA5S8 RNA5S13 MIR5008 MIR3620 JMJD4 GJC2 MRPL55 RNA5S5 PRSS38 WNT9A HIST3H2BB TRIM11 MIR6742 RHOU GUK1 C1orf145 ARF1 RNA5S17 SNAP47 C1orf35 LOC101927401 RNF187 RNA5S16 TRIM17 LOC100506571 LOC101060022 RNA5S6 RNA5S4 RNA5S2 HIST3H2A HIST3H3 LOC105373289 OBSCN LOC107985355 LOC105373132 IBA57-AS1 RNA5S9 WNT3A BTNL10 DUSP5P1
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss HIST3H2A HIST3H3 OBSCN LOC101927401 HIST3H2BB IBA57 IBA57-AS1 TRIM17 TRIM11 MIR4666A MIR6742 GUK1 C1orf145 GJC2
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss C1orf35 LOC101927401 RNF187 IBA57 TRIM17 MIR4666A LOC100506571 LOC101060022 MIR5008 MIR3620 GJC2 MRPL55 HIST3H2A HIST3H3 OBSCN WNT9A HIST3H2BB LOC107985355 IBA57-AS1 TRIM11 MIR6742 GUK1 C1orf145 ARF1 WNT3A
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss IBA57-AS1 GUK1 IBA57 GJC2

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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