Busch Lab

ZMP

dkc1

Ensembl ID:
ENSDARG00000016484
ZFIN ID:
ZDB-GENE-031118-120
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
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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