itpkc

Ensembl ID:
ENSDARG00000002994
ZFIN ID:
ZDB-GENE-030131-6009
Human Orthologue:
ITPKC
Human Description:
inositol 1,4,5-trisphosphate 3-kinase C [Source:HGNC Symbol;Acc:14897]
Mouse Orthologue:
Itpkc
Mouse Description:
inositol 1,4,5-trisphosphate 3-kinase C Gene [Source:MGI Symbol;Acc:MGI:2442554]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa11700 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa11700
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
ENSDART00000020415 Nonsense 200 417 3 7
ENSDART00000148346 Nonsense 200 361 3 7
Genomic Location:
Chromosome 21 (position 20118740)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCCTTTGTTCCRGGATATTACGGCGTGACTCAGCGGGATGAGCAGGATTA[C/A]AACCTGATGGATGACCTGCTGGCCGACTTTGACTCTCCCTGCATCATGGA
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/iqz0sxz6