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

Chr.1:228171990 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03372970_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 Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
IBA57 NM_001010867.3 NP_001010867.1
AK022796.1 2 851
BI820993.1
DN831582.1
HY081013.1

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

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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