The POLR1D gene homepage

General information
Gene symbol POLR1D
Gene name polymerase (RNA) I polypeptide D, 16kDa
Chromosome 13
Chromosomal band q12.2
Imprinted Unknown
Genomic reference NG_028908.1
Transcript reference NM_015972.3
Exon/intron information NM_015972.3 exon/intron table
Associated with diseases ID, TCS, TCS2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 33
Unique public DNA variants reported 27
Individuals with public variants 49
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated December 13, 2022
Version POLR1D:221213

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_015972.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 20422
Entrez Gene 51082
PubMed articles POLR1D
OMIM - Gene 613715
OMIM - Diseases TCS2 (Treacher Collins syndrome, type 2 (TCS-2))
GeneCards POLR1D
GeneTests POLR1D
Orphanet POLR1D

Active transcripts




NCBI ID     

NCBI Protein ID     

00016499 13 transcript variant 1 NM_015972.3 NP_057056.1 33

Copyright & disclaimer
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