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

Chr.1:228166606 on build GRCh38
Cytoband
1q42.13
Assay ID Hs03361996_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 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 C1orf35 MIR3620 OBSCN GUK1 IBA57-AS1 C1orf145 IBA57 GJC2 MRPL55 ARF1
nsv826908 Chr.1:227707685 - 228503399 on Build GRCh38 Gain C1orf35 MIR3620 OBSCN WNT3A MIR6742 C1orf145 WNT9A MRPL55 LOC101060022 HIST3H2A TRIM17 GJC2 LOC101927401 ARF1 RNF187 TRIM11 MIR5008 LOC107985355 IBA57-AS1 MIR4666A SNAP47 IBA57 LOC105373289 HIST3H2BB HIST3H3 LOC100506571 GUK1 PRSS38 JMJD4
esv32853 Chr.1:227692415 - 228670462 on Build GRCh38 Gain C1orf35 MIR3620 OBSCN RHOU WNT9A LOC101060022 HIST3H2A LOC105373132 RNF187 TRIM11 MIR5008 RNA5S5 SNAP47 IBA57 RNA5S11 HIST3H2BB RNA5S3 HIST3H3 BTNL10 RNA5S9 GUK1 DUSP5P1 PRSS38 JMJD4 RNA5S14 WNT3A MIR6742 C1orf145 MRPL55 RNA5S15 TRIM17 GJC2 LOC101927401 RNA5S12 ARF1 RNA5S6 RNA5S13 LOC107985355 RNA5S2 IBA57-AS1 MIR4666A RNA5S4 LOC105373289 RNA5S8 LOC100506571 RNA5S1 RNA5S17 RNA5S16 RNA5S10 RNA5S7
nsv827019 Chr.1:228126466 - 228463319 on Build GRCh38 Loss TRIM11 OBSCN IBA57-AS1 MIR4666A MIR6742 C1orf145 IBA57 HIST3H2BB HIST3H3 HIST3H2A GUK1 TRIM17 GJC2 LOC101927401
nsv523935 Chr.1:227850423 - 228494048 on Build GRCh38 Loss C1orf35 MIR3620 OBSCN WNT3A MIR6742 C1orf145 WNT9A MRPL55 LOC101060022 HIST3H2A TRIM17 GJC2 LOC101927401 ARF1 RNF187 TRIM11 MIR5008 LOC107985355 IBA57-AS1 MIR4666A IBA57 HIST3H2BB HIST3H3 LOC100506571 GUK1
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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