PHYKPL gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol PHYKPL
Gene name 5-phosphohydroxy-L-lysine phospho-lyase
Chromosome 5
Chromosomal band q35.3
Imprinted Unknown
Genomic reference NC_000005.9
Transcript reference NM_001278346.1, NM_153373.3, NR_103508.1, NR_103509.1, NR_103510.1, XM_005266001.1, XM_005266002.1, XR_245278.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 15, 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 28249
Entrez Gene 85007
PubMed articles PHYKPL
OMIM - Gene 614683
HGMD PHYKPL
GeneCards PHYKPL
GeneTests PHYKPL


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001841 5 transcript variant 1 NR_103508.1 - 2
00001842 5 transcript variant 2 NM_153373.3 NP_699204.1 2
00001843 5 transcript variant 5 NR_103510.1 - 2
00001844 5 transcript variant 4 NR_103509.1 - 2
00001845 5 transcript variant 3 NM_001278346.1 NP_001265275.1 2
00001846 5 transcript variant X1 XM_005266001.1 XP_005266058.1 2
00001847 5 transcript variant X3 XR_245278.1 - 2
00001848 5 transcript variant X2 XM_005266002.1 XP_005266059.1 2


Copyright & disclaimer
MSeqDR Curation

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium