ZMP
dkc1
Ensembl ID:
ZFIN ID:
Description:
dyskerin [Source:RefSeq peptide;Acc:NP_001028279]
Human Orthologue:
DKC1
Human Description:
dyskeratosis congenita 1, dyskerin [Source:HGNC Symbol;Acc:2890]
Mouse Orthologue:
Dkc1
Mouse Description:
dyskeratosis congenita 1, dyskerin homolog (human) Gene [Source:MGI Symbol;Acc:MGI:1861727]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa10276 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa10276
Status:
Available for shipment
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000017176 | Essential Splice Site | 484 | 506 | 14 | 15 |
| ENSDART00000126190 | None | None | 56 | None | 8 |
Genomic Location (Zv9):
Chromosome 21 (position 42121780)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 43720826 |
| GRCz11 | 21 | 43716002 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTGGCAGAGGAGGCAGCGGCCGAGGCTCCAGCGGAGGAAGAAACTGAGG[T/C]CAGCAAATAATATANNNNNNNNNNNNNNNNNNTCTGGACTCTTCAGCTTTATCCTGCTCTCMCTGTAA
Long Flanking Sequence:
CTTAATGGTCTTAAAAGGTGTTAAATTTGACATTGTTATCTGCAGAGACCCTGTATATCAGCTTTGTCTACTAAATGTGAATTTTCCAAAGCTCAATTTGTCTCCTAAATGGATTAACAATTGACTATTTTATTTACTCTTATTACTTGCATCGCTACTATGAAATGTTAATTCATTCATTTTTTTTTTCCTGTTGTAGCACAACGAAGGTGAAAAAGGGTGGTGAAGCTTCTGCAAAGGTAAACCTGACTGCTGAAATGCATCAGTACTTTTAAATCCAATACTGATCGATATTGAATGTTTATTTTTTGTCCTTCAATGTTTGTTGTAGAGGAAACGAGACGAGAGTGGAAGTGAAGGCGAAGCTGCAGCTGCTGCTCAGGACACCTCAAAGACGGAGGAAGAAAGCAAGAAGGAAAAGAAGAAAAAGAAGAAAGAAAAGAAGCAGAAGTTGGCAGAGGAGGCAGCGGCCGAGGCTCCAGCGGAGGAAGAAACTGAGG[T/C]CAGCAAATAATATATCTGGACTCTTCAGCTTTATCCTGCTCTCACTGTAAAGATGAAACTGTAAATACGCATCTCTTTTCCCACAGGTTACAGAGAGCGCAAAGAAGAAGAAGAAAAAGAAAAAGGCCAAAGAGACTGAGGCAGACTCTGATTGAACACTCATACTGTAGAGGAGAGAATGTGGACTCTGCTAATGGACATTTATTCCTCCCTCCATTCATTCATCCGGTCAGTCATGTCTGCTGCAGTGTGATCGCGGACAGAACAGCGGCTCGATCAAGATCCATGAGTTTGAAGTTTGGTCTTTGGTTGCGGTTGTGATGCTACTTTGTTTTTCTTAAACGAGACCCGTGTTGTCTGGGTATATTCATGTATTTTGAATGGAGAATTTCCTTTTTTTTTATTGTAAATACAGAGATTGTAATCCTGTTATCAAATGAAACATGACTGACTTTTTACAAAAAACAAATGTTTGTCTTGCACTTGGGGTCTGCTTTTCA
Associated Phenotype:
Not determined