Assay Details
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 Exon 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TPMT | NM_000367.3 | 9 | 2262 | NP_000358.1 |
XM_011514839.2 | 8 | 2175 | XP_011513141.1 | |
XM_017011241.1 | 10 | 2556 | XP_016866730.1 | |
S62904.1 | 8 | 2150 | AAB27277.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv601049 | Chr.6:18099363 - 18131233 on Build GRCh38 | Gain | NHLRC1 TPMT |
nsv1034755 | Chr.6:18064320 - 18173781 on Build GRCh38 | Loss | KDM1B NHLRC1 TPMT |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |