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

Chr.1:228181955 on build GRCh38
Cytoband
1q42.13
Assay ID Hs01628907_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 7522 NP_001010867.1
NM_001310327.1 3 7233 NP_001297256.1
CA425016.1 1 320

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

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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