Hs01862499_cn

• Gene Symbol: ABO
• Assay Reference Genome Location: Chr.9:133255576 on build GRCh38
• Cytoband: 9q34.2

Target Gene Details

• Entrez Gene ID: 28
• Gene Name: ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
• Gene Aliases: A3GALNT, A3GALT1, GTB, NAGAT
• Location: Chr.9:133255176-133275214 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ABO	NM_020469.2	7	1180	NP_065202.2
	AK302203.1
	AV761252.1
	JX398332.1
	JX398333.1
	JX519569.1	7	1155
	JX519570.1	7	1155
	S44054.1			AAB23167.2
	U15197.1	1	106	AAD14781.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv1267e201	Chr.9:133254729 - 133255686 on Build GRCh38	Deletion	ABO
esv2739138	Chr.9:132727483 - 135521553 on Build GRCh38	Deletion	SNORD24 MRPS2 WDR5 MIR3689D1 MIR3689B LOC100130548 SNORD36B SURF6 OBP2B ADAMTSL2 PPP1R26-AS1 RPL7A SNORD36A TSC1 SLC2A6 MIR4669 MIR6877 MIR3689C COL5A1 C9orf62 LOC401557 FAM163B VAV2 MED22 LOC100996574 AK8 COL5A1-AS1 REXO4 RALGDS SARDH LOC101928193 MIR3689E DBH-AS1 SURF4 LOC101448202 MIR3689F GBGT1 CACFD1 C9orf116 MIR3689A SURF1 LINC00094 OLFM1 FCN2 DBH TMEM8C STKLD1 RNU6ATAC SNORD141A SURF2 LOC101928525 MIR3689D2 FCN1 SNORD36C LOC105376306 CEL ADAMTS13 MIR548AW GTF3C5 RXRA LCN1 CELP BRD3 SPACA9 ABO GFI1B PPP1R26
nsv469905	Chr.9:133174393 - 133290774 on Build GRCh38	Gain	OBP2B LOC101928193 ABO
dgv951n27	Chr.9:133156364 - 133320327 on Build GRCh38	Gain	OBP2B GBGT1 LOC101928193 ABO
nsv615616	Chr.9:133254625 - 133259604 on Build GRCh38	Loss	ABO
nsv951798	Chr.9:133254614 - 133263597 on Build GRCh38	Deletion	ABO
nsv442166	Chr.9:133253155 - 133257484 on Build GRCh38	Loss	ABO
esv21618	Chr.9:133252944 - 133258222 on Build GRCh38	Loss	ABO
esv3621936	Chr.9:133252403 - 133258233 on Build GRCh38	Loss	ABO
esv2659903	Chr.9:133252413 - 133258230 on Build GRCh38	Deletion	ABO

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

glycosyltransferase

Gene Ontology Categories:

Process(es)

protein glycosylation

Function(s)

glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity
fucosylgalactoside 3-alpha-galactosyltransferase activity
metal ion binding