HMBS gene homepage

General information
Gene symbol HMBS
Gene name hydroxymethylbilane synthase
Chromosome 11
Chromosomal band q23.2-qter
Imprinted Unknown
Genomic reference NG_008093.1
Transcript reference NM_000190.3
Exon/intron information NM_000190.3 exon/intron table
Associated with diseases AIP
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 38
Unique public DNA variants reported 34
Individuals with public variants 0
Hidden variants 0
Date created May 03, 2013
Date last updated June 26, 2018
Version HMBS:180626

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_000190.3.
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
HGNC 4982
Entrez Gene 3145
PubMed articles HMBS
OMIM - Gene 609806
OMIM - Diseases AIP (porphyria, acute intermittent (AIP))

Active transcripts




NCBI ID     

NCBI Protein ID     

00009459 11 transcript variant 1 NM_000190.3 NP_000181.2 38

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