LOC561288

Ensembl ID:
ENSDARG00000032157
Human Orthologue:
GRK6
Human Description:
G protein-coupled receptor kinase 6 [Source:HGNC Symbol;Acc:4545]
Mouse Orthologue:
Grk6
Mouse Description:
G protein-coupled receptor kinase 6 Gene [Source:MGI Symbol;Acc:MGI:1347078]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa13892 Nonsense Available for shipment Available now
sa43692 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa13892
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027459 Nonsense 117 575 5 16
Genomic Location:
Chromosome 21 (position 36022732)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTAAGCATGGTTTCACATACCAGTTCTTCTGTTTGCAGTCAGWAGACTA[C/A]ATCCCTGAGGTAACAGARGAGATGGTGACTAAGTGTGCAGAMYGCTTGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43692
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027459 Nonsense 542 575 15 16
Genomic Location:
Chromosome 21 (position 36054128)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACATCTTGAATTTGGACGGCACTGTGCCTCCTGACCTGGACTGGAGGGGT[C/T]AACCTTCACCCCCACCCAAACAGGGCTTACTGCAGAGACTCTTCGGCCGT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Chronic kidney disease: New loci associated with kidney function and chronic kidney disease. (View Study)
  • Metabolite levels: Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. (View Study)
  • Prothrombin time: Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

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