Mutation Details for c.417C>T
|
|
cDNA Name
|
c.417C>T
|
|
Exon or Intron
|
exon 4
|
|
Legacy Exon or Intron
|
exon 4
|
|
|
549C/T
|
|
Other Details
|
This polymorphism was found by DGGE in a normal individual originating from Hungary and identified by direct sequencing.
It creates a Fok I restriction site.
|
|
Contributors
|
Claustres M,
Guittard C,
Desgorges M,
Carles S
1997-01-16
|
|
Institute
|
Institut de Biologie Montpelier
|
|
Submitted Phenotype Details
|
549C/T was found in a normal individual from Hungary. (pers. corr. Claustres)
|
|
Reference
|
Claustres et al. (NL#69)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
