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Part Description

LP71438-3   TRAPPC2 gene
The TRAPPC2 gene (trafficking protein particle complex 2) [HGNC Gene ID:23068] is located on chromosome Xp22. The protein encoded by this gene is thought to be part of a large multi-subunit complex involved in the targeting and fusion of endoplasmic reticulum-to-Golgi transport vesicles with their acceptor compartment. In addition, the encoded protein can bind c-myc promoter-binding protein 1 and block its transcriptional repression capability. Mutations in this gene are a cause of spondyloepiphyseal dysplasia tarda (SEDT). A processed pseudogene of this gene is located on chromosome 19, and other pseudogenes are found on chromosomes 8 and Y. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2010] [NCBI Gene ID:6399] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
TRAPPC2 gene targeted mutation analysis:Find:Pt:Bld/Tiss:Doc:Molgen
Long Common Name
TRAPPC2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method
Short Name
TRAPPC2 gene Mut Anl Bld/T
Display Name
TRAPPC2 gene targeted mutation analysis Molgen Doc (Bld/Tiss)
Consumer Name Alpha Get Info
TRAPPC2 gene targeted mutation analysis, Blood or tissue specimen

Part Model Get Info

  • Component
    TRAPPC2 gene targeted mutation analysis
    LP229836-4
    • Analyte
      TRAPPC2 gene targeted mutation analysis
      LP229836-4
      • Component Numerator
        TRAPPC2 gene targeted mutation analysis
        LP229836-4
        • Component Numerator Core
          TRAPPC2 gene
          LP71438-3
        • Component Numerator Core Suffix
          targeted mutation analysis
          LP32419-1
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Find
    LP6813-2
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Doc
    LP32888-7
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.26
Last Updated
Version 2.68 (MIN)
Change Reason
Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.; Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen TRAPPC2 cílená mutační analýza:Nález:Časový bod:Krev/tkáň:Dokument:Molekulární genetika
el-GRGreek (Greece)Γονίδιο TRAPPC2 στοχευμένη ανάλυση μεταλλάξεων:Εύρεση:Pt:Αίμα/Ιστός:Doc:Μοριακή γενετική
Synonyms: Doc MOLPATH MOLPATH.MUT Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο TRAPPC2 Εύρεση Ιστός Μοριακή γενετική στοχευμένη ανάλυση μεταλλάξεων
es-ESSpanish (Spain)Gen TRAPPC2 Analisis de mutaciones:Hallazgo:Punto temporal:Sangre o tejido:Doc:Genética molecular
es-MXSpanish (Mexico)Análisis de mutaciones dirigidas al gen TRAPPC2:Hallazgo:Punto temporal:Sangre o tejido:Documento:Genética molecular
fr-FRFrench (France)TRAPPC2 gène mutation cible trouvée:Recherche:Ponctuel:Sang/Tissu:Document:Biologie moléculaire
it-ITItalian (Italy)TRAPPC2, gene analisi di mutazione mirata:Osservazione:Pt:Sangue/Tess:Doc:Molgen
Synonyms: Gene TRAPPC2 Genetica molecolare Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)TRAPPC2-gen doelgerichte mutatie-analyse:bevinding:moment:bloed of weefsel:document:moleculair genetisch onderzoek
Synonyms: molgen targeted TRAPPC2 gen
pl-PLPolish (Poland)TRAPPC2 gen ukierunkowana analiza mutacji:stwierdzenie:punkt w czasie:krew lub tkanka:dokument:genetyka molekularna
Synonyms: Analiza mutacji genu TRAPPC2 diagnostyka molekularna Gen TRAPPC2
pt-BRPortuguese (Brazil)TRAPPC2 análise de mutação genética:Ident:Pt:Sg/Tecido:Nar:Genética molecular
Synonyms: MIP; MIP-2A; SEDL; SEDT; TRS20; MBP-1 interacting protein-2A; MBP-1-interacting protein 2A; spondyloepiphyseal dysplasia, late; trafficking protein particle complex 2; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Narrative; Report; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RURussian (Russian Federation)TRAPPC2 ген исследование на мутацию:Находка:ТчкВрм:Кр/Тк:Док:МолГен
Synonyms: Документ Кровь Кровь или Ткань Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)TRAPPC2 geni Mutasyon analizi:Bulgu:Zmlı:Kan/Dk:Dokm:Molgen
zh-CNChinese (China)TRAPPC2 基因 突变分析:发现:时间点:全血/组织:文档型:分子遗传学类实验室方法
Synonyms: MIP2A;SEDL;SEDT;TRAPPC2P1;TRS20;ZNF547L;hYP38334;trafficking protein particle complex 2;sedlin; trafficking protein particle complex subunit 2;转运蛋白颗粒复合物 2;转运蛋白颗粒复合体 2;转运蛋白复合粒子 2;運輸蛋白顆粒複合體 2;迟发性脊椎骨骺发育不良病蛋白;转运蛋白颗粒复合物 亚基 2;转运蛋白颗粒复合体 亚基 2;转运蛋白颗粒复合物 亚单位 2;转运蛋白 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 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 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因突变分析 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=53894-2