Assay Details
Target Gene Details
Entrez Gene ID: | 2651 |
Gene Name: | glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) |
Gene Aliases: |
CCAT, CTRCT13, GCNT2C, GCNT5, IGNT, II, NACGT1, NAGCT1, ULG3, bA360O19.2, bA421M1.1 |
Location: |
Chr.6:10521283-10629368 on Build GRCh38 |
Assay Gene Location: | Within Intron 8 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv600988 | Chr.6:10501021 - 10614845 on Build GRCh38 | Loss | GCNT2 |
nsv966670 | Chr.6:10447438 - 10871656 on Build GRCh38 | Duplication | C6orf52 MAK MIR5689HG PAK1IP1 TMEM14B LOC101928106 GCNT2 TMEM14C |
nsv462631 | Chr.6:10449025 - 10839526 on Build GRCh38 | Gain | C6orf52 MAK MIR5689HG PAK1IP1 TMEM14B LOC101928106 GCNT2 TMEM14C |
nsv470800 | Chr.6:10538711 - 10863092 on Build GRCh38 | Gain | C6orf52 MAK PAK1IP1 TMEM14B GCNT2 TMEM14C |
esv2759406 | Chr.6:10443564 - 10642899 on Build GRCh38 | Loss | MIR5689HG LOC101928106 GCNT2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |