present in Gene: HPS3
present in Chromosome: 3
Position on Chromosome: 149145547
Alleles of this Variant: G/A
rs201227603 in
HPS3 gene and
Hermanski-Pudlak Syndrome
PMID 11590544 2001 Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.