LOC564478

Ensembl ID:
ENSDARG00000073744
Human Orthologue:
IP6K1
Human Description:
inositol hexakisphosphate kinase 1 [Source:HGNC Symbol;Acc:18360]
Mouse Orthologue:
Ip6k1
Mouse Description:
inositol hexaphosphate kinase 1 Gene [Source:MGI Symbol;Acc:MGI:1351633]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa25187 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa25187
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 2014.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113362 Nonsense 246 453 4 5
Genomic Location:
Chromosome 22 (position 42123281)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCTGCTGGAAAATGTGGTCCATCACTTCAAATACCCCTGCATCCTGGACT[T/A]GAAGATGGGCACCCGGCAGCATGGGGACGATGCCTCCGAGGAAAAAGCTG
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/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/j8u511vm