Hs00934767_cn

• Gene Symbol: GALNT9
• Assay Reference Genome Location: Chr.12:132203611 on build GRCh38
• Cytoband: 12q24.33

Target Gene Details

• Entrez Gene ID: 50614
• Gene Name: polypeptide N-acetylgalactosaminyltransferase 9
• Gene Aliases: GALNAC-T9, GALNACT9
• Location: Chr.12:132195829-132329364 on Build GRCh38
• Assay Gene Location: Within Exon 13

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GALNT9	NM_001122636.1	7	1273	NP_001116108.1
	NM_021808.3	3	337	NP_068580.2
	XM_017019371.1	6	1005	XP_016874860.1
	XM_017019372.1	6	965	XP_016874861.1
	XM_017019373.1	7	1322	XP_016874862.1
	XM_017019374.1	6	942	XP_016874863.1
	AB040672.2	7	1157	BAB13699.2
	AF458594.1	3	334	AAM49722.1
	AK054820.1	4	474
	AK055773.1	6	930
	BC093817.1	2	147
	BC093819.1	2	147
	BI760629.1	2	409
	CB154648.1
	DR001000.1	2	141

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv3019n54	Chr.12:132181784 - 132203592 on Build GRCh38	Loss	GALNT9
nsv560966	Chr.12:132194518 - 132483313 on Build GRCh38	Gain	LOC105370092 LOC100130238 MUC8 GALNT9 LOC101928416
esv3631288	Chr.12:132190709 - 132205907 on Build GRCh38	Gain	GALNT9
esv3580551	Chr.12:132196503 - 132206310 on Build GRCh38	Loss	GALNT9
nsv952512	Chr.12:132192256 - 132711214 on Build GRCh38	Deletion	LOC105370092 P2RX2 FBRSL1 MIR6763 POLE LOC100130238 MUC8 LRCOL1 GALNT9 PXMP2 PGAM5 LOC100996573 LOC101928416
nsv520897	Chr.12:132199317 - 132218324 on Build GRCh38	Loss	GALNT9
nsv1041402	Chr.12:132076412 - 132441297 on Build GRCh38	Gain	LOC105370092 EP400NL NOC4L EP400 LOC100130238 GALNT9 DDX51 LOC101928416
nsv528119	Chr.12:132174775 - 132218324 on Build GRCh38	Loss	GALNT9
nsv826563	Chr.12:132125383 - 132622340 on Build GRCh38	Gain	LOC105370092 P2RX2 NOC4L FBRSL1 MIR6763 LOC100130238 MUC8 LRCOL1 GALNT9 DDX51 EP400NL LOC100996573 LOC101928416
dgv103n21	Chr.12:132117051 - 132442096 on Build GRCh38	Loss	LOC105370092 EP400NL NOC4L LOC100130238 GALNT9 DDX51 LOC101928416
nsv428285	Chr.12:132065104 - 132208513 on Build GRCh38	Gain	EP400NL NOC4L EP400 GALNT9 DDX51

More Information

Additional Information:

For this assay, SNP(s) [rs117160424] 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

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

protein O-linked glycosylation
O-glycan processing

Function(s)

polypeptide N-acetylgalactosaminyltransferase activity
carbohydrate binding
metal ion binding