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 |
---|---|---|---|
sa45556 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa6121 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa36006 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa15635 | Nonsense | Available for shipment | Available now |
sa9222 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa42635 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa15488 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa45556
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000027060 | Essential Splice Site | 49 | 586 | 2 | 5 |
Genomic Location (Zv9):
Chromosome 15 (position 46744233)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 47307297 |
GRCz11 | 15 | 47894826 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGCAGGGGCCCGGGGCCGCCGCCAACTCCTCCCCGGGGTTCCTGCCTCC[A/G]GTACGGGTGTCGATGGTCAAGCTGAAGCCGGAGGACCCGAGCGAGGAGTC
Long Flanking Sequence:
ATAAACTGGGAAAAATAAAAACTTGAATCACAAAATGAGGAAAACTGCTTATTTAGGGATATATTTTACATACTTTTGTTTTTAATTGTGTCTATCCGACTGTATCCATAAAGCTAGATAGATGTGATGCAGAGATCATCATCCTCGTCTCTCCTCAGCATCAGCATCAGCATCAGCATCCTCCTCCATCTTGTTTGTAGTTTTCCCGCATTATTTCCAGGTCAGGGGCTCGGCGCTTCCTGTGCGGCGCGCGGACTGAAGATGGCCGCGGATGGAGGCGCGCTGAAGGATATCAATGAGATTAAGTCTCAGTTCCGGACCCGCGAGGGATTTTACAAGCTGCTCACCCTCTCCGACTCCCAGCAGCGGGCCGGGCTGCCGCGGGGGCCGACCGGTGTCACGGCGGGCGCGGGCTCCATCCCGGGCGGCGCTGCCGGTGTGGGGGGGCTGGTGCAGGGGCCCGGGGCCGCCGCCAACTCCTCCCCGGGGTTCCTGCCTCC[A/G]GTACGGGTGTCGATGGTCAAGCTGAAGCCGGAGGACCCGAGCGAGGAGTCCGAGCGCGTGTGCTTCAATATCGGCAGAGAACTCTACTTCTACACCTACACCAACATCAAGAAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCTGAGATGTGCTTTGTTTACATTCGCGTCTAGAATTAAATCACTGATAAATCAGTTCACAGCAGCTCTACACAGCTTGGTTGGCGTTGCATGTGTGATGCTGAAGCATTTGTGATGTTTACATTAAGCAGAACATATGAAAACAAATGACAGTGAGCAAATCAAATCACTGCAGTTCTCTCAGCGTGCTGATCTGTGTGTAGAGCTGCTGACAATTATTATGTTCACATGAAATGAATTGGGTGTGTGTTTAATTCAGACTGACTGCGGTTCTGAGATGTGCTTTGTTTACATTTGTGTATATAATTAAATCCCAGATAATTAAATTCAAAATTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa6121
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000027060 | Nonsense | 131 | 586 | 4 | 5 |
Genomic Location (Zv9):
Chromosome 15 (position 46747893)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 47302408 |
GRCz11 | 15 | 47890036 |
KASP Assay ID:
554-3820.1 (used for ordering genotyping assays)
KASP Sequence:
TAATTCATTTAAACACCTGTAATYAATGTGCATCTTTATGTTKCACAGCT[A/T]AAAGTGTAACTAGTCAAGTATAATGTGAAAATGACAAAACCTGAACCACA
Long Flanking Sequence:
TTTATAAAGTTAAAAATGTCAATAAACGTTAAATATCAATTTGATCTTGTTGTAAAATTATATTTTATAATAACTGAAAGCACAGAAGATGAAGATTGTGAAAGAGTGGAGCTGTGTAAAACAACACACTCAGCAATTTTTTCTCTAATCATGCTTTTTCAATAAAATCCCAGAAAATATTGCGATGTTGTTGTCAATATCACACACTCCAGATGTCATCAGAGTTAATGATGAAACATTGATCAGTTGGACATGATTATTGTAAAGCTGCTTTCTCCATCATTTGTATGAAAACAGGAAGAATGCACAGAAGTGTCGGGTGTTTGAGCAGAAAACCTCAAACAGTCACTAATATTTGGTAATTTCCTGGAGGCAGTTTGAGTTTGTCAATCGAAGAAAAGTTCTTTAGGTCACACACTTTATTGAGGATTACTGCTGAGAAAAAGCTTGTAATTCATTTAAACACCTGTAATCAATGTGCATCTTTATGTTTCACAGCT[A/T]AAAGTGTAACTAGTCAAGTATAATGTGAAAATGACAAAACCTGAACCACAAGCTCCACATGTTAGACTTTATTTTAGACCGTTTCCAACAATAGAATTAAATGACTACAGTTAATAAACAAAACAAAACAATTCAACTCATGTGTGTCTGAAATGGAATAAGAAACATGCTGATTTAATCCTAAATCTCCTAACAATCCATAATAATAAACAACAACTATATTCATCAAATTAACATCATGATCCTGTCAGCTCATTCTTATCCTGATACACTTTTTTTTTCTTACTAAATAAACAATAGGAAAACTAATCGAATTGATCTTCATTAAATTTGTTTATATTTTTCAAAAACATTTTTAAAATAGTAAAAAAAAATGAACACAATAATTGAACAATCAAAATACACACACACACACACACACACACACACACACACACACACACACACATATATTGTTGGAATTTATAATCCATTCCATGCATGTTCAATACAAACTCAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa36006
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000027060 | Nonsense | 173 | 586 | 5 | 5 |
Genomic Location (Zv9):
Chromosome 15 (position 46750288)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 47300015 |
GRCz11 | 15 | 47887643 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAGAGAATCTGTTCCTGGCCTCGCACGCCAGCGGGCACCTGTACCTGTA[T/G]AACGTGGAGCATCCGTGCGGCACCACGGCCCCACAGTACTGTCTGCTGCG
Long Flanking Sequence:
ATGTGTTTTATTTGGGCTAGAATAAAAGCAGTTATTAATGTTTAAACACATGTTAAGCTCAATATTATTCCCCCCTTCAGCAATATTAGTGTTGGATTGTCTCCAGAACAAACCACTGTTATACAATGACTTGCCTAATTACCCTAACTTTACCCTGATTACCCTAGTGAAGCCTTTACATGTCACTGTAAGCTGAACACTAGTGTCTTGAAGAAGATCTAGTCTAATATGATGTGCTGTCATCATGGTGAAGAGGAACAGACATCAGTGATTAGAGATGAGTTATTAACACTGTTATGATTAGACGTGTTCGTCTCTCTGGAATTGCACACATATATATATATACACACACAGCAGGGTGAATAATTCAGACTTCAACTGTATGTGTTTGTGTTTTCCCAGAGGCTGATCGACAAATCCAAGGTGACGTGTCTGAAGTGGCTGCCCAAGTCAGAGAATCTGTTCCTGGCCTCGCACGCCAGCGGGCACCTGTACCTGTA[T/G]AACGTGGAGCATCCGTGCGGCACCACGGCCCCACAGTACTGTCTGCTGCGGCAGGGCGAGGGCTTCTCCGTCTACTCCTGCAAGACCAAAACACCCCGCAACCCGTTACTGCGCTGGGTCGTCGGAGAGGGCGGTCTGAACGAGTTCGCCTTCTCACCTGACGGCGTACATGTAGCCTGCGTGGGTCAGGACGGCTGTCTGAGAGTCTTCCACTTCGACTCCATGGAGCTGCAGGGCGTCATGAAGAGCTACTTCGGCGGACTTCTCTGCGTCTCCTGGAGCCCTGACGGGAAATATCTGGCAACCGGCGGAGAGGATGATTTAGTGACTGTGTGGTCGTTTTCTGAGAGTCGTGTGGTCGCTCGAGGACACGGACACAAGTCTTGGGTGAATGTGGTGGCGTTCGATCCGTTCACCACCAATCTGGAGGATGAGGAGCCGATGGAGCTGAGCGGCAGCGATGAGGATCTCCAGCAGGGGGCGCTGCACTTCGGGCGTGT
Associated Phenotype:
Not determined
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:
sa9222
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000027060 | Nonsense | 341 | 586 | 5 | 5 |
Genomic Location (Zv9):
Chromosome 15 (position 46750790)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 47299513 |
GRCz11 | 15 | 47887141 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GYGGCAGCGATGAGGATCTCCAGCAGGGGGCGCTGCACTTCGGGCGTGTG[C/T]GAACCAGTAGTACGCTSTCACGACTATCCAGACACAGCTYAAAGGGAGGA
Long Flanking Sequence:
ACGTGGAGCATCCGTGCGGCACCACGGCCCCACAGTACTGTCTGCTGCGGCAGGGCGAGGGCTTCTCCGTCTACTCCTGCAAGACCAAAACACCCCGCAACCCGTTACTGCGCTGGGTCGTCGGAGAGGGCGGTCTGAACGAGTTCGCCTTCTCACCTGACGGCGTACATGTAGCCTGCGTGGGTCAGGACGGCTGTCTGAGAGTCTTCCACTTCGACTCCATGGAGCTGCAGGGCGTCATGAAGAGCTACTTCGGCGGACTTCTCTGCGTCTCCTGGAGCCCTGACGGGAAATATCTGGCAACCGGCGGAGAGGATGATTTAGTGACTGTGTGGTCGTTTTCTGAGAGTCGTGTGGTCGCTCGAGGACACGGACACAAGTCTTGGGTGAATGTGGTGGCGTTCGATCCGTTCACCACCAATCTGGAGGATGAGGAGCCGATGGAGCTGAGCGGCAGCGATGAGGATCTCCAGCAGGGGGCGCTGCACTTCGGGCGTGTG[C/T]GAACCAGTAGTACGCTCTCACGACTATCCAGACACAGCTCAAAGGGAGGAGCGGCGTCCGTTTCGTATAGATTCGGGTCGGTCGGACAGGATACGCAGTTTTGTTTGTGGGATCTAACGGATGATGTTTTATATCCGCGACTTCCGCTCTCTAGAGCACTCACGAATACATTCGGTCCGACGGTTGCCACGTCTAACAGTGGCAGTGTTGTTGAAGGACATCATCATCCGTCTATTCAGACGGCATCTACGTTGCCGTTGCCTTTACCGCGCTCGCTGTCGCGCTCAAACTCCCTGCCGCATCCAGCAGTGGCTAACACCTCCAAAAGCCAGGGGGCGCCGGAGAGCACGGGAACAGTTAGCAGCAGCGGAACTGTCACGCCGTTCAGCATCGGCCGCTTCGCCACGCTGTCTCTACAAGAGCGTAAATCAGACAAGTCAGGCGTGGGCGGAGAAAAGGAGCACAAGCGATATCACAGCCTGGGGAACATCAGCAAGAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42635
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000027060 | Nonsense | 348 | 586 | 5 | 5 |
Genomic Location (Zv9):
Chromosome 15 (position 46750811)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 47299492 |
GRCz11 | 15 | 47887120 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCAGGGGGCGCTGCACTTCGGGCGTGTGCGAACCAGTAGTACGCTCTCA[C/T]GACTATCCAGACACAGCTCAAAGGGAGGAGCGGCGTCCGTTTCGTATAGA
Long Flanking Sequence:
CCACGGCCCCACAGTACTGTCTGCTGCGGCAGGGCGAGGGCTTCTCCGTCTACTCCTGCAAGACCAAAACACCCCGCAACCCGTTACTGCGCTGGGTCGTCGGAGAGGGCGGTCTGAACGAGTTCGCCTTCTCACCTGACGGCGTACATGTAGCCTGCGTGGGTCAGGACGGCTGTCTGAGAGTCTTCCACTTCGACTCCATGGAGCTGCAGGGCGTCATGAAGAGCTACTTCGGCGGACTTCTCTGCGTCTCCTGGAGCCCTGACGGGAAATATCTGGCAACCGGCGGAGAGGATGATTTAGTGACTGTGTGGTCGTTTTCTGAGAGTCGTGTGGTCGCTCGAGGACACGGACACAAGTCTTGGGTGAATGTGGTGGCGTTCGATCCGTTCACCACCAATCTGGAGGATGAGGAGCCGATGGAGCTGAGCGGCAGCGATGAGGATCTCCAGCAGGGGGCGCTGCACTTCGGGCGTGTGCGAACCAGTAGTACGCTCTCA[C/T]GACTATCCAGACACAGCTCAAAGGGAGGAGCGGCGTCCGTTTCGTATAGATTCGGGTCGGTCGGACAGGATACGCAGTTTTGTTTGTGGGATCTAACGGATGATGTTTTATATCCGCGACTTCCGCTCTCTAGAGCACTCACGAATACATTCGGTCCGACGGTTGCCACGTCTAACAGTGGCAGTGTTGTTGAAGGACATCATCATCCGTCTATTCAGACGGCATCTACGTTGCCGTTGCCTTTACCGCGCTCGCTGTCGCGCTCAAACTCCCTGCCGCATCCAGCAGTGGCTAACACCTCCAAAAGCCAGGGGGCGCCGGAGAGCACGGGAACAGTTAGCAGCAGCGGAACTGTCACGCCGTTCAGCATCGGCCGCTTCGCCACGCTGTCTCTACAAGAGCGTAAATCAGACAAGTCAGGCGTGGGCGGAGAAAAGGAGCACAAGCGATATCACAGCCTGGGGAACATCAGCAAGAGCAACGACAAGATCAACGTAGCG
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