ENSDARG00000086169

Ensembl ID:
ENSDARG00000086169
Human Orthologue:
AC005726.6
Human Description:
Uncharacterized serine/threonine-protein kinase SgK494 [Source:UniProtKB/Swiss-Prot;Acc:Q96LW2]
Mouse Orthologue:
BC030499
Mouse Description:
cDNA sequence BC030499 Gene [Source:MGI Symbol;Acc:MGI:2652869]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa43706 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa43706
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
ENSDART00000130290 Essential Splice Site 178 227 6 7
Genomic Location (Zv9):
Chromosome 21 (position 38493574)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 39635141
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTTGACTCTGGCGGTGTTTATATGCTGTGATTGCGTTTATTTTCCCTCTA[G/A]TGTGTGATTACTGCAGCACAGGGGACTTGTACACATACTGGGTGATGATC
Associated Phenotype:
Not determined

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