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

Chr.1:228182085 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01846446_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 7652 NP_001010867.1
NM_001310327.1 3 7363 NP_001297256.1
CA425016.1 1 190

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-AS1 GJC2 IBA57
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion MIR3620 OBSCN GUK1 IBA57-AS1 GJC2 MRPL55 ARF1 C1orf145 C1orf35 IBA57
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain HIST3H3 LOC101927401 RNF187 GUK1 WNT3A LOC105373289 TRIM11 IBA57 JMJD4 LOC100506571 GJC2 HIST3H2BB ARF1 MIR4666A TRIM17 HIST3H2A LOC101060022 LOC107985355 OBSCN IBA57-AS1 MIR5008 MIR3620 MIR6742 SNAP47 WNT9A MRPL55 C1orf145 PRSS38 C1orf35
esv3589046 Chr.1:228180819 - 228184966 on Build GRCh38 Loss IBA57
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNA5S17 GUK1 RNA5S16 WNT3A LOC105373289 RNA5S11 TRIM11 IBA57 ARF1 DUSP5P1 MIR4666A TRIM17 RNA5S4 HIST3H2A LOC101060022 BTNL10 IBA57-AS1 RNA5S13 MIR5008 RNA5S12 MIR6742 WNT9A LOC105373132 MRPL55 RNA5S14 PRSS38 RNA5S5 HIST3H3 LOC101927401 RNA5S10 RNA5S15 RNF187 RNA5S2 RNA5S3 RNA5S1 RNA5S8 RNA5S6 JMJD4 LOC100506571 GJC2 HIST3H2BB RNA5S9 RHOU LOC107985355 OBSCN RNA5S7 MIR3620 SNAP47 C1orf145 C1orf35
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss HIST3H2A HIST3H3 LOC101927401 OBSCN GUK1 IBA57-AS1 TRIM11 IBA57 MIR6742 GJC2 HIST3H2BB C1orf145 MIR4666A TRIM17
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss HIST3H3 LOC101927401 RNF187 GUK1 WNT3A TRIM11 IBA57 LOC100506571 GJC2 HIST3H2BB ARF1 MIR4666A TRIM17 HIST3H2A LOC101060022 LOC107985355 OBSCN IBA57-AS1 MIR5008 MIR3620 MIR6742 WNT9A MRPL55 C1orf145 C1orf35
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss GUK1 IBA57-AS1 GJC2 IBA57

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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