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 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GCNT2 | NM_145649.4 | NP_663624.1 | ||
XM_005248999.2 | XP_005249056.1 | |||
XM_006715052.3 | XP_006715115.1 | |||
AB078432.1 | BAC66781.1 | |||
AF458024.1 | AAM73864.1 | |||
AK090483.1 | BAC03464.1 | |||
AK098105.1 | BAC05234.1 | |||
AK291767.1 | ||||
AK307329.1 | ||||
AK307337.1 | ||||
AK307373.1 | ||||
AL832714.1 | ||||
AY435145.1 | AAR95646.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1030024 | Chr.6:10516796 - 10567176 on Build GRCh38 | Loss | GCNT2 |
nsv600988 | Chr.6:10501021 - 10614845 on Build GRCh38 | Loss | GCNT2 |
nsv966670 | Chr.6:10447438 - 10871656 on Build GRCh38 | Duplication | LOC101928106 PAK1IP1 MIR5689HG C6orf52 TMEM14B GCNT2 TMEM14C MAK |
nsv5195 | Chr.6:10515337 - 10549754 on Build GRCh38 | Insertion | GCNT2 |
nsv1022072 | Chr.6:10374492 - 10581628 on Build GRCh38 | Gain | LINC00518 LOC101928106 MIR5689HG TFAP2A GCNT2 TFAP2A-AS1 MIR5689 |
nsv462631 | Chr.6:10449025 - 10839526 on Build GRCh38 | Gain | LOC101928106 PAK1IP1 MIR5689HG C6orf52 TMEM14B GCNT2 TMEM14C MAK |
dgv5918n100 | Chr.6:10484627 - 10559867 on Build GRCh38 | Loss | GCNT2 |
nsv470800 | Chr.6:10538711 - 10863092 on Build GRCh38 | Gain | PAK1IP1 C6orf52 TMEM14B GCNT2 TMEM14C MAK |
esv2667708 | Chr.6:10213898 - 10574813 on Build GRCh38 | Deletion | LINC00518 LOC101928106 MIR5689HG TFAP2A GCNT2 TFAP2A-AS1 MIR5689 |
esv2759406 | Chr.6:10443564 - 10642899 on Build GRCh38 | Loss | LOC101928106 MIR5689HG GCNT2 |
dgv1165e214 | Chr.6:10521953 - 10553306 on Build GRCh38 | Loss | GCNT2 |
esv3570769 | Chr.6:10495003 - 10581182 on Build GRCh38 | Loss | GCNT2 |
More Information
Additional Information:
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation Validated |