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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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NP_001165699.1
- Ensembl ID:
- ENSDARG00000059735
- Description:
- diacylglycerol kinase epsilon [Source:RefSeq peptide;Acc:NP_001165699]
- Human Orthologue:
- DGKE
- Human Description:
- diacylglycerol kinase, epsilon 64kDa [Source:HGNC Symbol;Acc:2852]
- Mouse Orthologue:
- Dgke
- Mouse Description:
- diacylglycerol kinase, epsilon Gene [Source:MGI Symbol;Acc:MGI:1889276]
Alleles
There are 2 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa20679 | Essential Splice Site | Available for shipment | Available now |
| sa26723 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa20679
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- Order Allele From ZIRC
- Mutation:
- T > G
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083369 | Essential Splice Site | 394 | 566 | 7 | 11 |
- Genomic Location (Zv9):
- Chromosome 6 (position 19533989)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 6 21905082 GRCz11 6 18376403 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GCACAGAGAAAAAACACCCTCCTTTTTCTCCAGCCGAATAATCAATAAGG[T/G]CTGTGGCTTTGCCTGTCTGTCTTTTTATTTTTAAACTTAAAGGAAAAGTA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa26723
- 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 2018.
- Mutation:
- T > A
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000083369 | Essential Splice Site | 498 | 566 | 10 | 11 |
- Genomic Location (Zv9):
- Chromosome 6 (position 19531089)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 6 21907982 GRCz11 6 18379303 - KASP Assay ID:
- 554-6460.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GGTGAAACTGGCCAATCCTGTGAGGCTGGGACAAGCACATACAGTCCGGG[T/A]GAGAGCATAAGCATGTTCTTTATTAAAACAGCATTAATGGTGTGAAAAAC
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Height: Many sequence variants affecting diversity of adult human height. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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