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

Chr.1:228173613 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03379397_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 GJC2 IBA57-AS1 IBA57 GUK1
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain RNF187 JMJD4 GJC2 LOC100506571 MIR5008 HIST3H2A WNT9A LOC107985355 LOC101060022 TRIM11 SNAP47 ARF1 MIR4666A IBA57 WNT3A HIST3H2BB MIR3620 IBA57-AS1 MIR6742 C1orf35 PRSS38 LOC101927401 MRPL55 HIST3H3 OBSCN TRIM17 LOC105373289 C1orf145 GUK1
nsv1160102 Chr.1:228081212 - 228239280 on Build GRCh38 Deletion GJC2 OBSCN ARF1 IBA57-AS1 C1orf35 IBA57 C1orf145 MRPL55 MIR3620 GUK1
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain RNF187 JMJD4 RNA5S3 LOC100506571 WNT9A LOC101060022 TRIM11 ARF1 LOC105373132 RNA5S7 DUSP5P1 MIR4666A IBA57 RHOU HIST3H2BB MIR3620 RNA5S14 BTNL10 IBA57-AS1 MIR6742 RNA5S5 MRPL55 HIST3H3 RNA5S6 LOC105373289 GUK1 GJC2 RNA5S17 MIR5008 HIST3H2A LOC107985355 RNA5S4 RNA5S1 SNAP47 RNA5S12 RNA5S13 RNA5S10 WNT3A RNA5S15 RNA5S2 RNA5S8 C1orf35 PRSS38 LOC101927401 RNA5S9 RNA5S16 OBSCN TRIM17 RNA5S11 C1orf145
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss GJC2 IBA57-AS1 MIR6742 HIST3H2A LOC101927401 TRIM11 HIST3H3 OBSCN TRIM17 MIR4666A IBA57 C1orf145 HIST3H2BB GUK1
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss RNF187 GJC2 LOC100506571 MIR5008 HIST3H2A WNT9A LOC107985355 LOC101060022 TRIM11 ARF1 MIR4666A IBA57 WNT3A HIST3H2BB MIR3620 IBA57-AS1 MIR6742 C1orf35 LOC101927401 MRPL55 HIST3H3 OBSCN TRIM17 C1orf145 GUK1
dgv839n54 Chr.1:228139958 - 228183397 on Build GRCh38 Loss GJC2 IBA57-AS1 IBA57 GUK1
esv2724262 Chr.1:228173571 - 228174784 on Build GRCh38 Deletion IBA57

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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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