PLD4

Ensembl ID:
ENSDARG00000075770
Description:
phospholipase D family, member 4 [Source:HGNC Symbol;Acc:23792]
Human Orthologue:
PLD4
Human Description:
phospholipase D family, member 4 [Source:HGNC Symbol;Acc:23792]
Mouse Orthologue:
Pld4
Mouse Description:
phospholipase D family, member 4 Gene [Source:MGI Symbol;Acc:MGI:2144765]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa36285 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa36285
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
ENSDART00000109140 Essential Splice Site 42 241 2 5
Genomic Location (Zv9):
Chromosome 17 (position 1323023)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 1653549
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGGAGAACTGTTGAATGGTAATGATACACCGCTGTTTCTGCTGTCCATCA[G/A]GCCTCTCCGCCGGCGTTCTGTCCAGACTCTCGAACCCATGATCTCTCTGC
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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