Assay Details
Target Gene Details
Entrez Gene ID: | 338707 |
Gene Name: | beta-1,4-N-acetyl-galactosaminyltransferase 4 |
Gene Aliases: |
- |
Location: |
Chr.11:369773-382117 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 18 - Exon 19 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
B4GALNT4 | NM_178537.4 | NP_848632.2 | ||
XM_017017654.1 | XP_016873143.1 | |||
AB089939.1 | BAD06471.1 | |||
AK057774.1 | BAB71566.1 | |||
BC131528.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv527327 | Chr.11:295343 - 620599 on Build GRCh38 | Loss | IFITM3 IFITM2 MIR210 IFITM1 LRRC56 LMNTD2 PKP3 PGGHG HRAS MIR210HG SIGIRR PTDSS2 IRF7 B4GALNT4 RASSF7 ANO9 LOC101059906 LOC143666 IFITM5 CDHR5 RNH1 PHRF1 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | SNORA52 EPS8L2 PIDD1 MIR210 LRRC56 MIR6744 PANO1 LMNTD2 DRD4 HRAS MIR210HG SIGIRR TALDO1 PTDSS2 TSPAN4 IRF7 CD151 B4GALNT4 MUC5B MUC2 AP2A2 ANO9 LOC143666 PDDC1 MUC5AC SCT PNPLA2 CEND1 SLC25A22 CRACR2B PKP3 TMEM80 TOLLIP LOC101927503 LOC171391 RPLP2 DEAF1 CHID1 RASSF7 MUC6 POLR2L LOC101059906 CDHR5 RNH1 PHRF1 |
nsv552776 | Chr.11:366710 - 432436 on Build GRCh38 | Loss | SIGIRR B4GALNT4 PKP3 ANO9 |
esv28392 | Chr.11:363975 - 403432 on Build GRCh38 | Gain+Loss | B4GALNT4 PKP3 |
nsv951268 | Chr.11:368601 - 503700 on Build GRCh38 | Deletion | SIGIRR PTDSS2 B4GALNT4 PKP3 ANO9 RNH1 |
nsv552770 | Chr.11:356090 - 444628 on Build GRCh38 | Gain | SIGIRR B4GALNT4 PKP3 ANO9 |
dgv1505n54 | Chr.11:198510 - 470331 on Build GRCh38 | Gain | NLRP6 IFITM3 IFITM2 IFITM1 PSMD13 SIRT3 PKP3 PGGHG RIC8A ODF3 SIGIRR PTDSS2 B4GALNT4 MIR6743 ANO9 IFITM5 BET1L |
nsv1159790 | Chr.11:340219 - 491334 on Build GRCh38 | Deletion | SIGIRR PTDSS2 B4GALNT4 PKP3 ANO9 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | SNORA52 EPS8L2 PIDD1 MIR210 LRRC56 PANO1 LMNTD2 DRD4 HRAS MIR210HG SIGIRR TALDO1 PTDSS2 TSPAN4 IRF7 CD151 B4GALNT4 AP2A2 ANO9 LOC143666 PDDC1 SCT PNPLA2 CEND1 SLC25A22 CRACR2B PKP3 TMEM80 LOC171391 RPLP2 DEAF1 CHID1 RASSF7 POLR2L LOC101059906 CDHR5 RNH1 PHRF1 |
dgv1507n54 | Chr.11:368778 - 382912 on Build GRCh38 | Loss | B4GALNT4 |
More Information
Additional Information:
For this assay, SNP(s) [rs117291242] 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 Non-exonic DGV Variation |