Version 2.80

Part Description

LP410956-9   NUDT15 gene
The NUDT15 (nudix hydrolase 15) gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016][NCBI Gene ID: 55270] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
NUDT15 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
NUDT15 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
NUDT15 gene Mut Anl Bld/T
Display Name
NUDT15 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
NUDT15 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.PHARMG
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.67 (ADD)
Order vs. Observation
Observation

Language Variants Get Info

Tag Language Translation
el-GR Greek (Greece) Γονίδιο NUDT15 στοχευμένη ανάλυση μεταλλάξεων:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: Prid Γονίδιο Γονίδιο NUDT15
es-ES Spanish (Spain) Gen NUDT15 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen NUDT15:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) NUDT15 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) NUDT15, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Farmacogenomica Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) NUDT15-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted
zh-CN Chinese (China) NUDT15 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: Nudix水解酶15;核苷酸三磷酸二磷酸酶NUDT15;MutT 同源物 2;Nudix Hydrolase 15; Nucleotide Triphosphate Diphosphatase NUDT15;MutT Homolog 2;MTH2;EC 3.6.1.9 全血或组织;血液/组织;血液或组织 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=93194-9