Variant: rs541717028 

    present in Gene: MERTK
    present in Chromosome: 2
    Position on Chromosome: 112019497
    Alleles of this Variant: C/T

rs541717028 in MERTK gene and Retinitis Pigmentosa PMID 15111602 2004 MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.