ID-bases-logo
 - databases for immunodeficiency-causing variations

   DKC1base
   Variation registry for  Hoyeraal-Hreidarsson syndrome



Other resources

OMIM resources



DKC1 Reference Sequences
Sequence type Accession number Description
Genomic sequence IDRefSeq: D0028
 The reference sequence was derived from Ensembl Human sequence AC109993.4.1.178498.
mRNA IDRefSeq: C0028
 Homo sapiens dyskeratosis congenita 1, dyskerin, mRNA (cDNA clone MGC:4843 IMAGE:3604732), complete cds.
Amino Acid Sequence O60832 H/ACA ribonucleoprotein complex subunit 4 (EC 5.4.99.-) (Dyskerin) (Nucleolar protein family A member 4) (snoRNP protein DKC1) (Nopp140- associated protein of 57 kDa) (Nucleolar protein NAP57) (CBF5 homolog).