D1LXJ4_DANRE

Ensembl ID:
ENSDARG00000031702
Description:
cGMP dependent protein kinase I [Source:UniProtKB/TrEMBL;Acc:D1LXJ4]
Human Orthologue:
PRKG1
Human Description:
protein kinase, cGMP-dependent, type I [Source:HGNC Symbol;Acc:9414]
Mouse Orthologue:
Prkg1
Mouse Description:
protein kinase, cGMP-dependent, type I Gene [Source:MGI Symbol;Acc:MGI:108174]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa16398 Nonsense Available for shipment Available now
sa41962 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa16398
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000043236 Nonsense 21 684 1 18
Genomic Location (Zv9):
Chromosome 12 (position 6897597)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 6180517
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TACGCGATCTCCAGTACGCGTTACAGGAGAAGATTGAAGAATTGAGACAG[A/T]GAGACGCGCTTATCGACGAGCTGGAGTTGGAGCTCGACCARAAAGACGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41962
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 2017.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000043236 Essential Splice Site 231 684 4 18
Genomic Location (Zv9):
Chromosome 12 (position 7042329)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 6325249
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATGAGGACAGGACTCATCAAACATGCAGAGTACATGGAGTTCCTGAAGAG[G/A]TGAGCCCTCACTGCTTTCATTTCTATTCATTCATCTCCAACCCCTGATGC
Associated Phenotype:
Not determined

GWAS

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

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

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