ZMP
DMWD
Ensembl ID:
Description:
dystrophia myotonica, WD repeat containing [Source:HGNC Symbol;Acc:2936]
Human Orthologue:
DMWD
Human Description:
dystrophia myotonica, WD repeat containing [Source:HGNC Symbol;Acc:2936]
Mouse Orthologue:
Dmwd
Mouse Description:
dystrophia myotonica-containing WD repeat motif Gene [Source:MGI Symbol;Acc:MGI:94907]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa15635 | Nonsense | Available for shipment | Available now |
sa15488 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa15635
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000027060 | Nonsense | 286 | 586 | 5 | 5 |
Genomic Location (Zv9):
Chromosome 15 (position 46750626)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 47299677 |
GRCz11 | 15 | 47887305 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGGGAAATATCTGGCAACCGGCGGAGAGGAKGATTTAGTGACTGTGTGGT[C/A]GTTTTCTGAGAGTCGYGTKGTCGCTCGAGGACACGGACACAAGTCTTGGG
Long Flanking Sequence:
ATATATACACACACAGCAGGGTGAATAATTCAGACTTCAACTGTATGTGTTTGTGTTTTCCCAGAGGCTGATCGACAAATCCAAGGTGACGTGTCTGAAGTGGCTGCCCAAGTCAGAGAATCTGTTCCTGGCCTCGCACGCCAGCGGGCACCTGTACCTGTATAACGTGGAGCATCCGTGCGGCACCACGGCCCCACAGTACTGTCTGCTGCGGCAGGGCGAGGGCTTCTCCGTCTACTCCTGCAAGACCAAAACACCCCGCAACCCGTTACTGCGCTGGGTCGTCGGAGAGGGCGGTCTGAACGAGTTCGCCTTCTCACCTGACGGCGTACATGTAGCCTGCGTGGGTCAGGACGGCTGTCTGAGAGTCTTCCACTTCGACTCCATGGAGCTGCAGGGCGTCATGAAGAGCTACTTCGGCGGACTTCTCTGCGTCTCCTGGAGCCCTGACGGGAAATATCTGGCAACCGGCGGAGAGGATGATTTAGTGACTGTGTGGT[C/A]GTTTTCTGAGAGTCGTGTGGTCGCTCGAGGACACGGACACAAGTCTTGGGTGAATGTGGTGGCGTTCGATCCGTTCACCACCAATCTGGAGGATGAGGAGCCGATGGAGCTGAGCGGCAGCGATGAGGATCTCCAGCAGGGGGCGCTGCACTTCGGGCGTGTGCGAACCAGTAGTACGCTCTCACGACTATCCAGACACAGCTCAAAGGGAGGAGCGGCGTCCGTTTCGTATAGATTCGGGTCGGTCGGACAGGATACGCAGTTTTGTTTGTGGGATCTAACGGATGATGTTTTATATCCGCGACTTCCGCTCTCTAGAGCACTCACGAATACATTCGGTCCGACGGTTGCCACGTCTAACAGTGGCAGTGTTGTTGAAGGACATCATCATCCGTCTATTCAGACGGCATCTACGTTGCCGTTGCCTTTACCGCGCTCGCTGTCGCGCTCAAACTCCCTGCCGCATCCAGCAGTGGCTAACACCTCCAAAAGCCAGGGGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15488
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000027060 | Nonsense | 373 | 586 | 5 | 5 |
Genomic Location (Zv9):
Chromosome 15 (position 46750886)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 47299417 |
GRCz11 | 15 | 47887045 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAGGAGCGGCGTCCGTTTCGTATAGATTCGGGTCGGTCGGACAGGATACG[C/T]AGTTTTGTTTGTGGGATCTAACRGATGATGTTTTATATCCGCGAYTTCCG
Long Flanking Sequence:
GCAACCCGTTACTGCGCTGGGTCGTCGGAGAGGGCGGTCTGAACGAGTTCGCCTTCTCACCTGACGGCGTACATGTAGCCTGCGTGGGTCAGGACGGCTGTCTGAGAGTCTTCCACTTCGACTCCATGGAGCTGCAGGGCGTCATGAAGAGCTACTTCGGCGGACTTCTCTGCGTCTCCTGGAGCCCTGACGGGAAATATCTGGCAACCGGCGGAGAGGATGATTTAGTGACTGTGTGGTCGTTTTCTGAGAGTCGTGTGGTCGCTCGAGGACACGGACACAAGTCTTGGGTGAATGTGGTGGCGTTCGATCCGTTCACCACCAATCTGGAGGATGAGGAGCCGATGGAGCTGAGCGGCAGCGATGAGGATCTCCAGCAGGGGGCGCTGCACTTCGGGCGTGTGCGAACCAGTAGTACGCTCTCACGACTATCCAGACACAGCTCAAAGGGAGGAGCGGCGTCCGTTTCGTATAGATTCGGGTCGGTCGGACAGGATACG[C/T]AGTTTTGTTTGTGGGATCTAACGGATGATGTTTTATATCCGCGACTTCCGCTCTCTAGAGCACTCACGAATACATTCGGTCCGACGGTTGCCACGTCTAACAGTGGCAGTGTTGTTGAAGGACATCATCATCCGTCTATTCAGACGGCATCTACGTTGCCGTTGCCTTTACCGCGCTCGCTGTCGCGCTCAAACTCCCTGCCGCATCCAGCAGTGGCTAACACCTCCAAAAGCCAGGGGGCGCCGGAGAGCACGGGAACAGTTAGCAGCAGCGGAACTGTCACGCCGTTCAGCATCGGCCGCTTCGCCACGCTGTCTCTACAAGAGCGTAAATCAGACAAGTCAGGCGTGGGCGGAGAAAAGGAGCACAAGCGATATCACAGCCTGGGGAACATCAGCAAGAGCAACGACAAGATCAACGTAGCGCCGCGCAGCAGCCGGCTAGATGGCGCCAAAGTGCTGGGGACCACGCTGTGCCCACGTATGAACGAGGTGCCGCTG
Associated Phenotype:
Not determined