Reference sequences

I) Genomic:

The authoritative records for human SCN1A and its transcripts at the NCBI (NG_011906.1) and Locus-Reference-Genomic (LRG_8) records are currently incomplete, because they do not include the findings of the the 5' untranslated region and promoter as reported by Long et al. (see Promoter & UTRs page). Below is an adjusted sequence that begins 5,000 bp upstream of the SCN1A transcription start site and extends 2000 bp beyond the end of the last SCN1A coding exon (visit the exon boundaries page for more information).

  • .seq - sequence only, 166,973 bp
  • .gbk - fully annotated sequence file in GenBank format
  • .txt  - plain FASTA file as produced by the UCSC Genome Browser
  • .cm5 - fully annotated Clone Manager file

II) Transcripts (NM_...) and protein sequences (NP_...):