LOINC
Version 2.72

100025-6SRSF2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalActive

Part Description

LP265722-1   SRSF2 gene
The SRSF2 gene (serine and arginine rich splicing factor 2) [HGNC Gene ID:10783] is located on chromosome 17q25.1. The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants encoding the same protein and one non-coding transcript variant have been found for this gene. In addition, a pseudogene of this gene has been found on chromosome 11. [provided by RefSeq, Sep 2010] [NCBI Gene ID:6427] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
SRSF2 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
SRSF2 gene Mut Anl Bld/T
Display Name
SRSF2 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha
SRSF2 gene variant analysis, Blood or tissue specimen

Example Answer List LL744-4

Source: Regenstrief Institute

Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.72
Last Updated
Version 2.72
Order vs. Observation
Both

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100025-6