HEPH gene homepage

General information
Gene symbol HEPH
Gene name hephaestin
Chromosome X
Chromosomal band q11-q12
Imprinted Unknown
Genomic reference NG_016265.1
Transcript reference NM_138737.3
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 170
Unique public DNA variants reported 170
Individuals with public variants 0
Hidden variants 0
Date created May 03, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 4866
Entrez Gene 9843
PubMed articles HEPH
OMIM - Gene 300167

Active transcripts




NCBI ID     

NCBI Protein ID     

00007452 X transcript variant 1 NM_138737.3 NP_620074.3 170