[Genome] Further clarification of "func" definitions

Manolio, Teri (NIH/NHGRI) [E] manoliot at mail.nih.gov
Fri May 23 14:15:16 PDT 2008


Dear Genome Browser,

 

I'm looking for definitions of the "func" entries and found the query
and responses to Amit Indap but have a few more questions based on a
recent download:

 

1. Does "near-gene-5" mean within 2000 bp of the 5' end, and
"near-gene-3" mean within 2000 bp of the 3' end?  

2. Does "intron,near-gene-3" mean that one submitter located the SNP in
an intron, and another near-gene-3?

3. What does "cds-reference,missense" mean-can a missense mutation be
synonymous?  Or does this mean that two different submitters called it
two different things?

4. What is the definition of "untranslated-5"-presumably within a
certain number of basepairs of the transcription start site?

 

Thanks!

 

Teri Manolio

 

 

 

 

 

 

 



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