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 Exon 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 | |||
XM_011514468.2 | 4 | 1930 | XP_011512770.1 | |
XM_017010732.1 | 2 | 2002 | XP_016866221.1 | |
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 |
---|---|---|---|
nsv966670 | Chr.6:10447438 - 10871656 on Build GRCh38 | Duplication | C6orf52 PAK1IP1 GCNT2 LOC101928106 TMEM14B MIR5689HG TMEM14C MAK |
nsv5195 | Chr.6:10515337 - 10549754 on Build GRCh38 | Insertion | GCNT2 |
nsv1022072 | Chr.6:10374492 - 10581628 on Build GRCh38 | Gain | GCNT2 LOC101928106 LINC00518 TFAP2A-AS1 TFAP2A MIR5689HG MIR5689 |
dgv10300n54 | Chr.6:10467462 - 10531953 on Build GRCh38 | Loss | GCNT2 LOC101928106 |
dgv373n21 | Chr.6:10469593 - 10542543 on Build GRCh38 | Loss | GCNT2 LOC101928106 |
esv2762578 | Chr.6:10521813 - 10542877 on Build GRCh38 | Loss | GCNT2 |
dgv5917n100 | Chr.6:10465938 - 10535418 on Build GRCh38 | Loss | GCNT2 LOC101928106 |
esv34437 | Chr.6:10456877 - 10540980 on Build GRCh38 | Loss | GCNT2 LOC101928106 |
esv2759406 | Chr.6:10443564 - 10642899 on Build GRCh38 | Loss | GCNT2 LOC101928106 MIR5689HG |
dgv1165e214 | Chr.6:10521953 - 10553306 on Build GRCh38 | Loss | GCNT2 |
esv3570769 | Chr.6:10495003 - 10581182 on Build GRCh38 | Loss | GCNT2 |
esv3567263 | Chr.6:10467735 - 10531767 on Build GRCh38 | Deletion | GCNT2 LOC101928106 |
nsv1030024 | Chr.6:10516796 - 10567176 on Build GRCh38 | Loss | GCNT2 |
nsv600988 | Chr.6:10501021 - 10614845 on Build GRCh38 | Loss | GCNT2 |
esv3890790 | Chr.6:10513722 - 10531953 on Build GRCh38 | Loss | GCNT2 |
nsv462631 | Chr.6:10449025 - 10839526 on Build GRCh38 | Gain | C6orf52 PAK1IP1 GCNT2 LOC101928106 TMEM14B MIR5689HG TMEM14C MAK |
dgv5918n100 | Chr.6:10484627 - 10559867 on Build GRCh38 | Loss | GCNT2 |
esv2667708 | Chr.6:10213898 - 10574813 on Build GRCh38 | Deletion | GCNT2 LOC101928106 LINC00518 TFAP2A-AS1 TFAP2A MIR5689HG MIR5689 |
esv3608074 | Chr.6:10520017 - 10533330 on Build GRCh38 | Loss | GCNT2 |
nsv10801 | Chr.6:10466007 - 10531236 on Build GRCh38 | Loss | GCNT2 LOC101928106 |
esv3570768 | Chr.6:10466868 - 10530758 on Build GRCh38 | Loss | GCNT2 LOC101928106 |
More Information
Additional Information:
For this assay, SNP(s) [rs115543410] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |