DNA Alteration Details

System ID: 217

Gene: RBP

Chromosome: 8

Variant Type: splicing

Deleterious: yes

Year Discovered: 1993

Is Defect?: Yes

Mode of Inheitance: Autosomal Recessive

Reference Sequence:

Variant Source: Naturally occurring variant

Genomic or Mitochondrial:

Coding DNA Sequence or Genomic DNA Sequence:

Protein Sequence:

Reference Website: Visit website

Verbal Description: A deletion in the rd ribBP cDNA correspond[ing] precisely to an exon. The splice site following this exon contains a G-->A mutation at position 1 of the downstream 5'-splice donor sequence."

Trait: Disease -> Disease: Riboflavinuria

Breeds: NA