Hs06144164_cn

• Gene Symbol: TPMT
• Assay Reference Genome Location: Chr.6:18140868 on build GRCh38
• Cytoband: 6p22.3

Target Gene Details

• Entrez Gene ID: 7172
• Gene Name: thiopurine S-methyltransferase
• Gene Aliases: TPMTD
• Location: Chr.6:18128311-18155165 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TPMT	NM_000367.3			NP_000358.1
	XM_011514839.2			XP_011513141.1
	XM_017011241.1			XP_016866730.1
	AF021876.1			AAB80746.1
	AF021877.1			AAB80747.1
	AK310420.1
	BC005339.1			AAH05339.1
	BC009596.1			AAH09596.1
	BI598325.1
	S62904.1			AAB27277.1
	U12387.1			AAC50130.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1034755	Chr.6:18064320 - 18173781 on Build GRCh38	Loss	KDM1B NHLRC1 TPMT
nsv601050	Chr.6:18134947 - 18221240 on Build GRCh38	Gain	KDM1B TPMT

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

methyltransferase, transferase, metabolite interconversion enzyme

Gene Ontology Categories:

Process(es)

nucleobase-containing compound metabolic process
methylation

Function(s)

thiopurine S-methyltransferase activity