PHKA1 gene homepage

General information
Gene symbol PHKA1
Gene name phosphorylase kinase regulatory subunit alpha 1
Chromosome X
Chromosomal band q13.1
Imprinted Unknown
Genomic reference NG_016599.2
Transcript reference NM_001122670.1
Associated with diseases -
Citation reference(s) -
Curators (1) Admin
Total number of public variants reported 13
Unique public DNA variants reported 13
Individuals with public variants 296
Hidden variants 0
Date created October 11, 2018
Date last updated October 11, 2018
Version PHKA1:181011

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 8925
Entrez Gene 5255
PubMed articles PHKA1
OMIM - Gene 311870
HGMD PHKA1
GeneCards PHKA1
GeneTests PHKA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00009716 X phosphorylase kinase, alpha 1 (muscle), transcript variant 2 NM_001122670.1 NP_001116142.1 13


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