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

Chr.1:228176680 on build GRCh38
Cytoband
1q42.13
Assay ID Hs02011188_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 2247 NP_001010867.1
NM_001310327.1 3 1958 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 GJC2 GUK1 IBA57-AS1 IBA57
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion GJC2 GUK1 MRPL55 OBSCN C1orf145 MIR3620 C1orf35 ARF1 IBA57-AS1 IBA57
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain GJC2 HIST3H2BB LOC101927401 JMJD4 C1orf35 IBA57 LOC105373289 LOC100506571 MRPL55 SNAP47 OBSCN MIR5008 WNT9A TRIM11 IBA57-AS1 GUK1 RNF187 HIST3H3 MIR6742 LOC107985355 PRSS38 LOC101060022 HIST3H2A MIR4666A WNT3A C1orf145 MIR3620 TRIM17 ARF1
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S7 JMJD4 C1orf35 LOC105373289 LOC100506571 RNA5S17 MRPL55 LOC105373132 SNAP47 WNT9A IBA57-AS1 RNA5S9 RNA5S2 GUK1 HIST3H3 RNA5S13 RNA5S12 RHOU LOC107985355 PRSS38 RNA5S14 ARF1 GJC2 HIST3H2BB LOC101927401 BTNL10 RNA5S1 IBA57 RNA5S5 OBSCN RNA5S8 MIR5008 RNA5S15 TRIM11 RNA5S16 RNA5S4 RNA5S3 RNA5S6 RNF187 MIR6742 DUSP5P1 LOC101060022 HIST3H2A MIR4666A WNT3A C1orf145 MIR3620 RNA5S10 TRIM17 RNA5S11
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss GJC2 HIST3H2BB GUK1 LOC101927401 HIST3H3 MIR6742 IBA57 HIST3H2A MIR4666A OBSCN C1orf145 TRIM17 TRIM11 IBA57-AS1
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss GJC2 HIST3H2BB LOC101927401 C1orf35 IBA57 LOC100506571 MRPL55 OBSCN MIR5008 WNT9A TRIM11 IBA57-AS1 GUK1 RNF187 HIST3H3 MIR6742 LOC107985355 LOC101060022 HIST3H2A MIR4666A WNT3A C1orf145 MIR3620 TRIM17 ARF1
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss GJC2 GUK1 IBA57-AS1 IBA57

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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