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

Chr.1:228168912 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03343227_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
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 IBA57-AS1 IBA57 GJC2
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion GUK1 IBA57-AS1 ARF1 IBA57 OBSCN GJC2 MIR3620 C1orf35 C1orf145 MRPL55
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain IBA57 OBSCN JMJD4 MIR5008 LOC107985355 RNF187 PRSS38 TRIM11 LOC101060022 TRIM17 MIR4666A ARF1 LOC100506571 MIR6742 GJC2 MIR3620 LOC101927401 HIST3H2BB IBA57-AS1 HIST3H2A C1orf145 WNT3A WNT9A GUK1 SNAP47 C1orf35 LOC105373289 MRPL55 HIST3H3
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain OBSCN JMJD4 MIR5008 LOC107985355 PRSS38 RNA5S5 RNA5S4 RNA5S8 RNA5S10 RNA5S16 RNA5S7 C1orf145 WNT9A RNA5S9 GUK1 RNA5S12 LOC105373132 C1orf35 MRPL55 RNA5S6 HIST3H3 DUSP5P1 IBA57 RNA5S17 RNF187 TRIM11 RNA5S2 LOC101060022 TRIM17 MIR4666A ARF1 RNA5S1 BTNL10 LOC100506571 MIR6742 GJC2 MIR3620 RNA5S14 LOC101927401 RNA5S15 HIST3H2BB IBA57-AS1 HIST3H2A RNA5S3 RNA5S11 RHOU WNT3A SNAP47 LOC105373289 RNA5S13
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss IBA57-AS1 IBA57 HIST3H2A OBSCN C1orf145 TRIM11 TRIM17 GUK1 MIR4666A MIR6742 GJC2 LOC101927401 HIST3H2BB HIST3H3
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss IBA57 OBSCN MIR5008 LOC107985355 RNF187 TRIM11 LOC101060022 TRIM17 MIR4666A ARF1 LOC100506571 MIR6742 GJC2 MIR3620 LOC101927401 HIST3H2BB IBA57-AS1 HIST3H2A C1orf145 WNT3A WNT9A GUK1 C1orf35 MRPL55 HIST3H3
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss GUK1 IBA57-AS1 IBA57 GJC2

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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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