The ABCG5 gene homepage

General information
Gene symbol ABCG5
Gene name ATP-binding cassette, sub-family G (WHITE), member 5
Chromosome 2
Chromosomal band p21
Imprinted Unknown
Genomic reference NG_008883.1
Transcript reference NM_022436.2
Associated with diseases STSL, STSL2
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 240
Unique public DNA variants reported 212
Individuals with public variants 39
Hidden variants 3
Date created May 03, 2013
Date last updated May 08, 2021
Version ABCG5:210508

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 13886
Entrez Gene 64240
PubMed articles ABCG5
OMIM - Gene 605459
OMIM - Diseases STSL2 (sitosterolemia, type 2 (STSL2))
Orphanet ABCG5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001893 2 ATP-binding cassette, sub-family G (WHITE), member 5 NM_022436.2 NP_071881.1 240


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