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PHKG1P1 phosphorylase kinase catalytic subunit gamma 1 pseudogene 1 [ Homo sapiens (human) ]

Gene ID: 643941, updated on 27-Aug-2024

Summary

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Official Symbol
PHKG1P1provided by HGNC
Official Full Name
phosphorylase kinase catalytic subunit gamma 1 pseudogene 1provided by HGNC
Primary source
HGNC:HGNC:33916
See related
Ensembl:ENSG00000226075 AllianceGenome:HGNC:33916
Gene type
pseudo
RefSeq status
INFERRED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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Genomic context

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Location:
7q11.21
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (63232765..63234246, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (64431491..64432972, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (62693143..62694624, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U2-19 Neighboring gene glutamyl aminopeptidase (aminopeptidase A) pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:62694108-62694276 Neighboring gene septin 7 pseudogene 4 Neighboring gene zinc finger protein 733, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. Burwinkel B, et al. Eur J Hum Genet, 2003 Jul. PMID 12825073

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Other Names

  • phosphorylase kinase gamma subunit 1 pseudogene 1
  • phosphorylase kinase, gamma 1 (muscle) pseudogene
  • phosphorylase kinase, gamma 1 pseudogene 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_005544.5 

    Range
    101..1582
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    63232765..63234246 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    64431491..64432972 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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