Assay Details
Target Gene Details
Entrez Gene ID: | 283358 |
Gene Name: | beta-1,4-N-acetyl-galactosaminyltransferase 3 |
Gene Aliases: |
- |
Location: |
Chr.12:460377-561892 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
B4GALNT3 | NM_173593.3 | NP_775864.3 | ||
AB089940.1 | BAD02449.1 | |||
CN400443.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3628241 | Chr.12:468207 - 485357 on Build GRCh38 | Gain | B4GALNT3 |
esv2759875 | Chr.12:225844 - 881378 on Build GRCh38 | Gain+Loss | LOC100049716 B4GALNT3 KDM5A LOC102723544 CCDC77 NINJ2 LOC105369595 WNK1 SLC6A13 |
nsv1050781 | Chr.12:212187 - 674733 on Build GRCh38 | Loss | LOC100049716 B4GALNT3 KDM5A LOC102723544 CCDC77 NINJ2 LOC105369595 SLC6A12 SLC6A13 |
esv3628242 | Chr.12:470754 - 476578 on Build GRCh38 | Loss | B4GALNT3 |
esv3628236 | Chr.12:417352 - 561839 on Build GRCh38 | Gain | B4GALNT3 CCDC77 |
esv3892121 | Chr.12:386051 - 528197 on Build GRCh38 | Gain | B4GALNT3 KDM5A CCDC77 |
nsv1040579 | Chr.12:466467 - 652394 on Build GRCh38 | Gain | LOC100049716 B4GALNT3 NINJ2 LOC105369595 |
dgv1332n100 | Chr.12:461781 - 508815 on Build GRCh38 | Loss | B4GALNT3 |
nsv1046514 | Chr.12:444925 - 524251 on Build GRCh38 | Gain | B4GALNT3 |
More Information
Additional Information:
For this assay, SNP(s) [rs73590344] 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 Intronic Non-exonic DGV Variation |