Hs01849229_cn

• Gene Symbol: GALNT9
• Assay Reference Genome Location: Chr.12:132197116 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 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GALNT9	NM_001122636.1	11	1919	NP_001116108.1
	NM_021808.3	7	983	NP_068580.2
	XM_017019371.1	10	1651	XP_016874860.1
	XM_017019372.1	10	1611	XP_016874861.1
	XM_017019373.1	11	1968	XP_016874862.1
	XM_017019374.1	10	1588	XP_016874863.1
	AB040672.2			BAB13699.2
	AF458594.1	7	980	AAM49722.1
	AJ505960.1			CAD44540.1
	AK054820.1	8	1120
	AK055773.1	10	1576
	BC093817.1
	BC093819.1

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	LOC100130238 LOC101928416 GALNT9 LOC105370092 MUC8
esv3631288	Chr.12:132190709 - 132205907 on Build GRCh38	Gain	GALNT9
esv3892285	Chr.12:132154873 - 132201281 on Build GRCh38	Gain	GALNT9
esv3580551	Chr.12:132196503 - 132206310 on Build GRCh38	Loss	GALNT9
nsv952512	Chr.12:132192256 - 132711214 on Build GRCh38	Deletion	MIR6763 P2RX2 PXMP2 LOC105370092 LOC100996573 LRCOL1 POLE LOC100130238 LOC101928416 PGAM5 GALNT9 FBRSL1 MUC8
nsv1041402	Chr.12:132076412 - 132441297 on Build GRCh38	Gain	NOC4L LOC100130238 LOC101928416 GALNT9 LOC105370092 DDX51 EP400NL EP400
nsv528119	Chr.12:132174775 - 132218324 on Build GRCh38	Loss	GALNT9
nsv826563	Chr.12:132125383 - 132622340 on Build GRCh38	Gain	NOC4L MIR6763 P2RX2 LOC105370092 LOC100996573 LRCOL1 EP400NL LOC100130238 LOC101928416 GALNT9 DDX51 FBRSL1 MUC8
dgv103n21	Chr.12:132117051 - 132442096 on Build GRCh38	Loss	NOC4L LOC100130238 LOC101928416 GALNT9 LOC105370092 DDX51 EP400NL
nsv428285	Chr.12:132065104 - 132208513 on Build GRCh38	Gain	NOC4L GALNT9 DDX51 EP400NL EP400

More Information

Additional Information:

For this assay, SNP(s) [rs111344752] 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