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

Chr.1:228175790 on build GRCh38
Cytoband
1q42.13
Assay ID Hs02684424_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 1357 NP_001010867.1
NM_001310327.1 3 1068 NP_001297256.1
AK022796.1 4 3384

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