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

Chr.1:228177947 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01797290_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 3514 NP_001010867.1
NM_001310327.1 3 3225 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 IBA57 IBA57-AS1 GUK1
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion C1orf145 GJC2 ARF1 IBA57 IBA57-AS1 MRPL55 MIR3620 OBSCN C1orf35 GUK1
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain LOC101927401 MRPL55 TRIM11 HIST3H3 C1orf35 TRIM17 JMJD4 MIR4666A MIR6742 IBA57-AS1 WNT3A LOC100506571 C1orf145 HIST3H2BB LOC105373289 MIR3620 HIST3H2A SNAP47 LOC101060022 GJC2 ARF1 MIR5008 IBA57 LOC107985355 OBSCN WNT9A RNF187 PRSS38 GUK1
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain LOC101927401 RNA5S1 RNA5S13 MIR4666A RNA5S11 RNA5S10 LOC105373132 MIR6742 RNA5S15 LOC100506571 RNA5S14 C1orf145 RHOU HIST3H2BB LOC105373289 MIR3620 RNA5S4 RNA5S12 SNAP47 GJC2 LOC107985355 OBSCN RNA5S5 MRPL55 RNA5S8 TRIM11 HIST3H3 C1orf35 TRIM17 JMJD4 RNA5S16 IBA57-AS1 WNT3A RNA5S3 BTNL10 DUSP5P1 HIST3H2A LOC101060022 ARF1 MIR5008 RNA5S17 IBA57 RNA5S2 WNT9A RNA5S7 RNF187 RNA5S9 RNA5S6 PRSS38 GUK1
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss C1orf145 HIST3H2BB LOC101927401 TRIM11 HIST3H3 TRIM17 HIST3H2A GJC2 MIR4666A IBA57 MIR6742 IBA57-AS1 OBSCN GUK1
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss LOC101927401 MRPL55 TRIM11 HIST3H3 C1orf35 TRIM17 MIR4666A MIR6742 IBA57-AS1 WNT3A LOC100506571 C1orf145 HIST3H2BB MIR3620 HIST3H2A LOC101060022 GJC2 ARF1 MIR5008 IBA57 LOC107985355 OBSCN WNT9A RNF187 GUK1
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss GJC2 IBA57 IBA57-AS1 GUK1

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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