48013-7

LOINC 2.82

Genomic reference sequence [ID]

Genomic reference sequence ID

Definition

  • This field carries the ID for the genomic reference sequence. The genomic reference sequence is a contiguous stretch of chromosome DNA that spans all of the exons of the gene and includes transcribed and non transcribed stretches. For this ID use either the NCBI genomic nucleotide RefSeq IDs with their version number (see: NCBI.NLM.NIH.Gov/RefSeq) or use the LRG identifiers, without transcript (t or p) extensions -- when they become available. (See- Report sponsored by GEN2PHEN at the European Bioinformatics Institute at Hinxton UK April 24-25, 2008). The NCI RefSeq genomic IDs are distinguished by a prefix of"NG" for genes from the nuclear chromosomes and prefix of "NC" for genes from mitochondria. The LRG Identifiers have a prefix of "LRG_" Mitochondrial genes are not in the scope of LRG

Component

  • Genomic reference sequence identifier

Specimen / system

  • Bld/Tiss

Class

  • HL7.GENETICS

Property

  • ID

Scale

  • Nom

Related names

  • Blood; Genetic; Genetics; Genomic; Heredity; Heritable; HL7.GENETICS; Ident; Identifier; Inherited; MOLPATH.GENERAL; Nominal; Point in time; Random; Ref Sequence; Reference sequence ID; RefSeq; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Genetic
  • Genetics
  • Genomic
  • Genomic reference sequence identifier
  • Heredity
  • Heritable
  • HL7.GENETICS
  • Ident
  • Identifier
  • Inherited
  • MOLPATH.GENERAL
  • Nominal
  • Point in time
  • Random
  • Ref Sequence
  • Reference sequence ID
  • RefSeq
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue