ZMP
si:ch73-74h11.1
Ensembl ID:
ZFIN ID:
Human Orthologues:
DSG1, DSG2, DSG3, DSG4
Human Descriptions:
desmoglein 1 [Source:HGNC Symbol;Acc:3048]
desmoglein 2 [Source:HGNC Symbol;Acc:3049]
desmoglein 3 [Source:HGNC Symbol;Acc:3050]
desmoglein 4 [Source:HGNC Symbol;Acc:21307]
desmoglein 2 [Source:HGNC Symbol;Acc:3049]
desmoglein 3 [Source:HGNC Symbol;Acc:3050]
desmoglein 4 [Source:HGNC Symbol;Acc:21307]
Mouse Orthologues:
Dsg1a, Dsg1b, Dsg1c, Dsg2, Dsg3, Dsg4
Mouse Descriptions:
desmoglein 1 alpha Gene [Source:MGI Symbol;Acc:MGI:94930]
desmoglein 1 beta Gene [Source:MGI Symbol;Acc:MGI:2664357]
desmoglein 1 gamma Gene [Source:MGI Symbol;Acc:MGI:2664358]
desmoglein 2 Gene [Source:MGI Symbol;Acc:MGI:1196466]
desmoglein 3 Gene [Source:MGI Symbol;Acc:MGI:99499]
desmoglein 4 Gene [Source:MGI Symbol;Acc:MGI:2661061]
desmoglein 1 beta Gene [Source:MGI Symbol;Acc:MGI:2664357]
desmoglein 1 gamma Gene [Source:MGI Symbol;Acc:MGI:2664358]
desmoglein 2 Gene [Source:MGI Symbol;Acc:MGI:1196466]
desmoglein 3 Gene [Source:MGI Symbol;Acc:MGI:99499]
desmoglein 4 Gene [Source:MGI Symbol;Acc:MGI:2661061]
Alleles
There are 11 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa19230 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa12546 | Essential Splice Site | Available for shipment | Available now |
sa12536 | Essential Splice Site | Available for shipment | Available now |
sa13085 | Essential Splice Site | Available for shipment | Available now |
sa1812 | Missense | F2 line generated | Not yet available |
sa43406 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa10131 | Nonsense | Available for shipment | Available now |
sa12088 | Nonsense | Available for shipment | Available now |
sa8630 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa29325 | Missense | Mutation detected in F1 DNA | Not yet available |
sa32282 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa19230
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 20 (position 17010378)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 17070331 |
GRCz11 | 20 | 16969914 |
KASP Assay ID:
2261-4101.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAGACTTTATGAGAATGTAGACTACACAAAAGAGGAATATGTGGCAAAA[G/A]TAAGCATAAGTATTTTATGTGCGACTGAACACCTGCTGCCTGGTTTTTGT
Long Flanking Sequence:
ACGCAATATTTATTTCTAAGTGTTGCAAAAAAATGCACACTTTCACTTATATGAAACACTCCAATATAATAGCTATAATTTTTTAAGTGTTCATAAATAGCCACACACACACTAATAATATAATAATATGTGTACTTTATAAATGTAAAATTTAAACATAAACCTGTCATATATGTAATTTGCATACATCAATTCATTTCAGATTTCTATATTGGTTGTTTGTTTTGTTCATTTTATCTTAAGTAGTTTCTCGTAATAGCCCAAAGAACATATAAAATAAATGATTGTGGGGTAGATATGATAGAATGAATAACTGATCATGTTTTTCAATGTCAATGCTAAACGTTGTAAATGTATAAAAAATATATATAAATTTTTTTGTTTTTTTTTAGGGATCAAAAGCCAACATCAGATCTCATCGGAAGAAGCGAGAGTGGATTCTTCCACCAACAAGACTTTATGAGAATGTAGACTACACAAAAGAGGAATATGTGGCAAAA[G/A]TAAGCATAAGTATTTTATGTGCGACTGAACACCTGCTGCCTGGTTTTTGTCACTTTGTTGGTATGTTCCCACAAGCAATGCCGGTCATTTTAGACTTTGTAGGAACATTCTTTTGGATTCCATCAGGAAAACGCCACATAAATCATGCTGAATTATTTTATATTTTTTAAATGTTTTCTGTGAGGGTCCGGATTAGGGCTAGACTTGAGCTAAGAGGACAGAATTATATTGTCCGAAGAAGAAAAAAATCTTCTATTAGAAGTCCCCATAAAACATGAAAACTCAGCATGTATGTCTGGGTCGGTGTTTGCTGGATGTTGGCCTCACTAAAAAGCATATTTTGCATATGGGTGGCCCTGATAGTCTTTCCTTGTTTGTGCAATCATCTGAAAAACACGAGATCTGGACGCACTGGTTCTTCTATAAGCTGCATATTTCACCTGTTTCATAAATTCATCCTATATGCAGCTCCATATCTGAGACTCAGCAAAAACCAAAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12546
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 20 (position 17010378)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 17070331 |
GRCz11 | 20 | 16969914 |
KASP Assay ID:
2261-4101.1 (used for ordering genotyping assays)
KASP Sequence:
CAAGACTTTATGAGAATGTAGAYTRCACAAAAGAGGAATATGTGGCAAAA[G/A]TAAGCATWAGTATTTTATGTGCGACYGAACACCTGCTGCCTGGTTTTTGT
Long Flanking Sequence:
ACGCAATATTTATTTCTAAGTGTTGCAAAAAAATGCACACTTTCACTTATATGAAACACTCCAATATAATAGCTATAATTTTTTAAGTGTTCATAAATAGCCACACACACACTAATAATATAATAATATGTGTACTTTATAAATGTAAAATTTAAACATAAACCTGTCATATATGTAATTTGCATACATCAATTCATTTCAGATTTCTATATTGGTTGTTTGTTTTGTTCATTTTATCTTAAGTAGTTTCTCGTAATAGCCCAAAGAACATATAAAATAAATGATTGTGGGGTAGATATGATAGAATGAATAACTGATCATGTTTTTCAATGTCAATGCTAAACGTTGTAAATGTATAAAAAATATATATAAATTTTTTTGTTTTTTTTTAGGGATCAAAAGCCAACATCAGATCTCATCGGAAGAAGCGAGAGTGGATTCTTCCACCAACAAGACTTTATGAGAATGTAGACTACACAAAAGAGGAATATGTGGCAAAA[G/A]TAAGCATAAGTATTTTATGTGCGACTGAACACCTGCTGCCTGGTTTTTGTCACTTTGTTGGTATGTTCCCACAAGCAATGCCGGTCATTTTAGACTTTGTAGGAACATTCTTTTGGATTCCATCAGGAAAACGCCACATAAATCATGCTGAATTATTTTATATTTTTTAAATGTTTTCTGTGAGGGTCCGGATTAGGGCTAGACTTGAGCTAAGAGGACAGAATTATATTGTCCGAAGAAGAAAAAAATCTTCTATTAGAAGTCCCCATAAAACATGAAAACTCAGCATGTATGTCTGGGTCGGTGTTTGCTGGATGTTGGCCTCACTAAAAAGCATATTTTGCATATGGGTGGCCCTGATAGTCTTTCCTTGTTTGTGCAATCATCTGAAAAACACGAGATCTGGACGCACTGGTTCTTCTATAAGCTGCATATTTCACCTGTTTCATAAATTCATCCTATATGCAGCTCCATATCTGAGACTCAGCAAAAACCAAAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12536
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 20 (position 17010378)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 17070331 |
GRCz11 | 20 | 16969914 |
KASP Assay ID:
2261-4101.1 (used for ordering genotyping assays)
KASP Sequence:
CAAGACTTTATGAGAATGTAGAYTRCACAAAAGAGGAATATGTGGCAAAA[G/A]TAAGCATWAGTATTTTATGTGCGACYGAACACCTGCTGCCTGGTTTTTGT
Long Flanking Sequence:
ACGCAATATTTATTTCTAAGTGTTGCAAAAAAATGCACACTTTCACTTATATGAAACACTCCAATATAATAGCTATAATTTTTTAAGTGTTCATAAATAGCCACACACACACTAATAATATAATAATATGTGTACTTTATAAATGTAAAATTTAAACATAAACCTGTCATATATGTAATTTGCATACATCAATTCATTTCAGATTTCTATATTGGTTGTTTGTTTTGTTCATTTTATCTTAAGTAGTTTCTCGTAATAGCCCAAAGAACATATAAAATAAATGATTGTGGGGTAGATATGATAGAATGAATAACTGATCATGTTTTTCAATGTCAATGCTAAACGTTGTAAATGTATAAAAAATATATATAAATTTTTTTGTTTTTTTTTAGGGATCAAAAGCCAACATCAGATCTCATCGGAAGAAGCGAGAGTGGATTCTTCCACCAACAAGACTTTATGAGAATGTAGACTACACAAAAGAGGAATATGTGGCAAAA[G/A]TAAGCATAAGTATTTTATGTGCGACTGAACACCTGCTGCCTGGTTTTTGTCACTTTGTTGGTATGTTCCCACAAGCAATGCCGGTCATTTTAGACTTTGTAGGAACATTCTTTTGGATTCCATCAGGAAAACGCCACATAAATCATGCTGAATTATTTTATATTTTTTAAATGTTTTCTGTGAGGGTCCGGATTAGGGCTAGACTTGAGCTAAGAGGACAGAATTATATTGTCCGAAGAAGAAAAAAATCTTCTATTAGAAGTCCCCATAAAACATGAAAACTCAGCATGTATGTCTGGGTCGGTGTTTGCTGGATGTTGGCCTCACTAAAAAGCATATTTTGCATATGGGTGGCCCTGATAGTCTTTCCTTGTTTGTGCAATCATCTGAAAAACACGAGATCTGGACGCACTGGTTCTTCTATAAGCTGCATATTTCACCTGTTTCATAAATTCATCCTATATGCAGCTCCATATCTGAGACTCAGCAAAAACCAAAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13085
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
ENSDART00000091076 | Essential Splice Site | 27 | 747 | 1 | 18 |
ENSDART00000148312 | Essential Splice Site | 14 | 277 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 20 (position 17010378)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 17070331 |
GRCz11 | 20 | 16969914 |
KASP Assay ID:
2261-4101.1 (used for ordering genotyping assays)
KASP Sequence:
CAAGACTTTATGAGAATGTAGAYTRCACAAAAGAGGAATATGTGGCAAAA[G/A]TAAGCATWAGTATTTTATGTGCGACYGAACACCTGCTGCCTGGTTTTTGT
Long Flanking Sequence:
ACGCAATATTTATTTCTAAGTGTTGCAAAAAAATGCACACTTTCACTTATATGAAACACTCCAATATAATAGCTATAATTTTTTAAGTGTTCATAAATAGCCACACACACACTAATAATATAATAATATGTGTACTTTATAAATGTAAAATTTAAACATAAACCTGTCATATATGTAATTTGCATACATCAATTCATTTCAGATTTCTATATTGGTTGTTTGTTTTGTTCATTTTATCTTAAGTAGTTTCTCGTAATAGCCCAAAGAACATATAAAATAAATGATTGTGGGGTAGATATGATAGAATGAATAACTGATCATGTTTTTCAATGTCAATGCTAAACGTTGTAAATGTATAAAAAATATATATAAATTTTTTTGTTTTTTTTTAGGGATCAAAAGCCAACATCAGATCTCATCGGAAGAAGCGAGAGTGGATTCTTCCACCAACAAGACTTTATGAGAATGTAGACTACACAAAAGAGGAATATGTGGCAAAA[G/A]TAAGCATAAGTATTTTATGTGCGACTGAACACCTGCTGCCTGGTTTTTGTCACTTTGTTGGTATGTTCCCACAAGCAATGCCGGTCATTTTAGACTTTGTAGGAACATTCTTTTGGATTCCATCAGGAAAACGCCACATAAATCATGCTGAATTATTTTATATTTTTTAAATGTTTTCTGTGAGGGTCCGGATTAGGGCTAGACTTGAGCTAAGAGGACAGAATTATATTGTCCGAAGAAGAAAAAAATCTTCTATTAGAAGTCCCCATAAAACATGAAAACTCAGCATGTATGTCTGGGTCGGTGTTTGCTGGATGTTGGCCTCACTAAAAAGCATATTTTGCATATGGGTGGCCCTGATAGTCTTTCCTTGTTTGTGCAATCATCTGAAAAACACGAGATCTGGACGCACTGGTTCTTCTATAAGCTGCATATTTCACCTGTTTCATAAATTCATCCTATATGCAGCTCCATATCTGAGACTCAGCAAAAACCAAAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1812
Status:
F2 line generated
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 > A
Consequence:
Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091076 | Missense | 70 | 747 | 2 | 18 |
ENSDART00000148312 | Missense | 57 | 277 | 2 | 6 |
Genomic Location (Zv9):
Chromosome 20 (position 17007638)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 17067591 |
GRCz11 | 20 | 16967174 |
KASP Assay ID:
554-1804.1 (used for ordering genotyping assays)
KASP Sequence:
TAATTTGTTTGTTATCAATCCTGAGAATGGTTATGTCAAAGTCACAGGTC[T/A]GCTAGACAGAGAAAAAACATCTTCATACAACGTGAGTTGTGTCCCGTGTT
Long Flanking Sequence:
AAATATGGTATATGATGTAAATTACATAAAAAACTAATAGAAAAAAATGATTAAAATAAATTAATCATAATGGCCTAGTTGTTGATAATTGTTTTTCTGTATCTATGCTAAATATGCTGAAATAAAGTATAATTGGACAAAAAAAAAAAAAAAAAAAAAGTTGGTAACACCAGTGACAAAAAATGGTTCATGCGATCTTTAGGCTCATTAAAATCATTGTGCTGTCATGTGTTTTCATAAATTCAATTGGTAATTGATTAACGTAGTCTAAGTTTAAATGTTAAATAAAGAAATAGATTTTTAGTACTTTTCCTAAACAAAAAGTGCATGTTTTCATGTTTTTTTCTTGTAATATTGTCTTGCTCTTTTCTAGATTCGCTCTGATAAAGATATTAACTGGCAGGTGGTGGAATATGGATTAACAGGTCATGGTGCCAACAAGCTACCCTATAATTTGTTTGTTATCAATCCTGAGAATGGTTATGTCAAAGTCACAGGTC[T/A]GCTAGACAGAGAAAAAACATCTTCATACAACGTGAGTTGTGTCCCGTGTTTGGGATAGTCAAAGCTACCGAAATGACAATTGACTGAAAAAATTAATTACTGAGAAACATTTTTCTTTTGTGCAGCTGACTGGCATTGCTAAATATCGTAACGGATCAATAGCTGAAGAAAACATTATGCTTAAGATTAAAGTTGAGGATCAGAATGATAACTTTCCGATATTCAGAGAGCAAAGTGGATCTGTGAAAGAAAGCAGCAAGATTGGTGGGTTCATTTATTTATTATTTTTCTGCTCTCTGAATTATGACAGATTCTCCACCACATAATTAAAATAAAAAATAACTATTCTGACATGTAATTTGTCTAAATTGATATGAATATCTTGAAACTTACAAATGAATATATTGAAGTTGAAACTTATGTCTGTGTTTCCATGTCATGTTATTTTTTGAGCTTTAAGTTTTTTTTTTTTTTTTTTGAGTTTAGCATCTGTCAATTCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43406
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091076 | Nonsense | 127 | 747 | 3 | 18 |
ENSDART00000148312 | Nonsense | 114 | 277 | 3 | 6 |
Genomic Location (Zv9):
Chromosome 20 (position 17007374)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 17067327 |
GRCz11 | 20 | 16966910 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCCGATATTCAGAGAGCAAAGTGGATCTGTGAAAGAAAGCAGCAAGATT[G/T]GTGGGTTCATTTATTTATTATTTTTCTGCTCTCTGAATTATGACAGATTC
Long Flanking Sequence:
AGTCTAAGTTTAAATGTTAAATAAAGAAATAGATTTTTAGTACTTTTCCTAAACAAAAAGTGCATGTTTTCATGTTTTTTTCTTGTAATATTGTCTTGCTCTTTTCTAGATTCGCTCTGATAAAGATATTAACTGGCAGGTGGTGGAATATGGATTAACAGGTCATGGTGCCAACAAGCTACCCTATAATTTGTTTGTTATCAATCCTGAGAATGGTTATGTCAAAGTCACAGGTCTGCTAGACAGAGAAAAAACATCTTCATACAACGTGAGTTGTGTCCCGTGTTTGGGATAGTCAAAGCTACCGAAATGACAATTGACTGAAAAAATTAATTACTGAGAAACATTTTTCTTTTGTGCAGCTGACTGGCATTGCTAAATATCGTAACGGATCAATAGCTGAAGAAAACATTATGCTTAAGATTAAAGTTGAGGATCAGAATGATAACTTTCCGATATTCAGAGAGCAAAGTGGATCTGTGAAAGAAAGCAGCAAGATT[G/T]GTGGGTTCATTTATTTATTATTTTTCTGCTCTCTGAATTATGACAGATTCTCCACCACATAATTAAAATAAAAAATAACTATTCTGACATGTAATTTGTCTAAATTGATATGAATATCTTGAAACTTACAAATGAATATATTGAAGTTGAAACTTATGTCTGTGTTTCCATGTCATGTTATTTTTTGAGCTTTAAGTTTTTTTTTTTTTTTTTTGAGTTTAGCATCTGTCAATTCTGTTTTTGAAATTGAATGAATATATCAGCGCTTTAAGTTTATATCACAATTAATACTTTTATTCATATTTTTTGTATAAAATTGATTTATTATTTGATTTATATCTGGAAAAAGTCAGAAATGCAGATTAGAAAAGTCGAAATTCTTATGTACGAGTTCGAAGTTAAGGATTGTGAGATATAAAGGGAAATTTTAGGTTGGGGAAACAACCATTCTCCATTAACAGATGATACTAATTAATATGCGGTAAATTTGCATAAAATTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10131
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:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091076 | Nonsense | 258 | 747 | 6 | 18 |
ENSDART00000148312 | Nonsense | 245 | 277 | 6 | 6 |
Genomic Location (Zv9):
Chromosome 20 (position 17006233)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 17066186 |
GRCz11 | 20 | 16965769 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTCATGAGAATTAAAGCCCAGGACAAAGATCTGAAATTCACTGATAACTG[G/A]CTGGCAGTGTTTGACATTCWGAAAGGAAATGAAGACAATCTCWTCTCCAT
Long Flanking Sequence:
ATACAGTATAATAAAACAATCCCCTGCAGAATCAGGAAATATGTTCTCCATCGATAGAGCAACTGGGAATGTCTATGTGAAGGAGAAAATCCTGGATCGAGAGGTAACATTAAACGGATAAAAATATCCCATGATATTTGCAGGTTCATGTAAAATGCAACATGATAGTTTAAATTCAGGTTTCTGGACATTTTTTTTACAGAGACATGATAAATATACTTTAATAGTTCAGGGAGTTGATATGGACGGACATCCATCTGGCAACACAGGAACAGGCACAGTGCATATTAATATTCTGGACATAAATGACAATGTTCCCACTCTTGAGAAAGAAGAGGTAAGAACTAACAAATGGAAGTTGTTGCATTTTTAAGGTTTTGTATTTAATAGCTTTTGTTTTTCCTCTATTAGTATTCAGGCAGTGTTGATGAAGGTGTGGTTGATGTGGTTGTCATGAGAATTAAAGCCCAGGACAAAGATCTGAAATTCACTGATAACTG[G/A]CTGGCAGTGTTTGACATTCTGAAAGGAAATGAAGACAATCTCTTCTCCATTGAAACAGACCCTAAAACCAACGAGGGAATTCTAAAACTCATCAAGGTAAATGTTTTGTTTAATAAAAATACAGTCTTTTATATAATAACACTTGTTCAGGGCTCAATACAGTCATTTGTCCTATAAATTTTTGCTTTTTTTTAATGCGTAAGCTTGTAAAATGTATGATGATTTACAGTATGTGATATTTAAAAAAGGATACTTCGAGTAAGTAATAAATACTTTAAAAAACATAAACCAATACGAACTCAATATACAGTGAATCATAACTGAGTACATCACACTTTGAAAATTAATATTTGTATCCATTTCTCAATGAATATAGGCAATGCGTTTTGATTTGTGACGGGTATACTTATATATGCTGAGTACTGTATGTGTGTATACGGAGTTTAAGTCAGAATCATTAGCCTCCCTAATTTATTAACCCCCCTGTTTATTTAATTACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12088
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:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091076 | Nonsense | 258 | 747 | 6 | 18 |
ENSDART00000148312 | Nonsense | 245 | 277 | 6 | 6 |
Genomic Location (Zv9):
Chromosome 20 (position 17006233)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 17066186 |
GRCz11 | 20 | 16965769 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTCATGAGAATTAAAGCCCAGGACAAAGATCTGAAATTCACTGATAACTG[G/A]CTGGCAGTGTTTGACATTCWGAAAGGAAATGAAGACAATCTCWTCTCCAT
Long Flanking Sequence:
ATACAGTATAATAAAACAATCCCCTGCAGAATCAGGAAATATGTTCTCCATCGATAGAGCAACTGGGAATGTCTATGTGAAGGAGAAAATCCTGGATCGAGAGGTAACATTAAACGGATAAAAATATCCCATGATATTTGCAGGTTCATGTAAAATGCAACATGATAGTTTAAATTCAGGTTTCTGGACATTTTTTTTACAGAGACATGATAAATATACTTTAATAGTTCAGGGAGTTGATATGGACGGACATCCATCTGGCAACACAGGAACAGGCACAGTGCATATTAATATTCTGGACATAAATGACAATGTTCCCACTCTTGAGAAAGAAGAGGTAAGAACTAACAAATGGAAGTTGTTGCATTTTTAAGGTTTTGTATTTAATAGCTTTTGTTTTTCCTCTATTAGTATTCAGGCAGTGTTGATGAAGGTGTGGTTGATGTGGTTGTCATGAGAATTAAAGCCCAGGACAAAGATCTGAAATTCACTGATAACTG[G/A]CTGGCAGTGTTTGACATTCTGAAAGGAAATGAAGACAATCTCTTCTCCATTGAAACAGACCCTAAAACCAACGAGGGAATTCTAAAACTCATCAAGGTAAATGTTTTGTTTAATAAAAATACAGTCTTTTATATAATAACACTTGTTCAGGGCTCAATACAGTCATTTGTCCTATAAATTTTTGCTTTTTTTTAATGCGTAAGCTTGTAAAATGTATGATGATTTACAGTATGTGATATTTAAAAAAGGATACTTCGAGTAAGTAATAAATACTTTAAAAAACATAAACCAATACGAACTCAATATACAGTGAATCATAACTGAGTACATCACACTTTGAAAATTAATATTTGTATCCATTTCTCAATGAATATAGGCAATGCGTTTTGATTTGTGACGGGTATACTTATATATGCTGAGTACTGTATGTGTGTATACGGAGTTTAAGTCAGAATCATTAGCCTCCCTAATTTATTAACCCCCCTGTTTATTTAATTACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8630
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091076 | Essential Splice Site | 291 | 747 | 7 | 18 |
ENSDART00000148312 | None | None | 277 | None | 6 |
Genomic Location (Zv9):
Chromosome 20 (position 17004258)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 17064211 |
GRCz11 | 20 | 16963794 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGATTTATACCCGTTTTATCTTTTTCCCCATGCCTGTCTACTTTCCTGAA[G/A]CCTGTTGATTTTGAAAAGGTCAAAGAGCTGGACCTCAATTTGGTTATATC
Long Flanking Sequence:
AGACAAGGCTGTTATCAACTTTTACACTACATGCCTACTGTTAAAAGTGCAGTATATTAAAGTGATAGTTCATCCCATTGTTCATCATTTATTCTTCTTCATATGGTTTTAAATCTTTATGAGTTTCTTTCTTTGTTAAACACAAAATAAGATATATGGAAGTAAGCTGGTTGATGGGACCCATTGACTTCCATAATAGGGGAAAATAATACTATGGAAGTCAGTGGGTACCAGCTGCCACCATTTTTTTTAAAATAGCTGCTTTTGTGTTCAACAGAAGAAAAAAACTCAAACAGGTTTGTGAAAAATGAGGGGTGAGTAAATCTTGACAGATTTTTTCGTTTTGAGTAAGCTATTTAATATGTGTGTGTGTGTTTCATTTTATGTTAAAGAGCCTGAGGCAATTTTGGAATTTCCTGTTACTGTTTAAATACTTAAAATTATACAATCTGATTTATACCCGTTTTATCTTTTTCCCCATGCCTGTCTACTTTCCTGAA[G/A]CCTGTTGATTTTGAAAAGGTCAAAGAGCTGGACCTCAATTTGGTTATATCAAATGTAGCTCCTTTTATAAACGGAAGTGCTTTAGAGCTGGACGTCAATCTGGACAAGGGTGGAGCAGGTGCCGGAGCAGGGGCTGGGGTGGGAGCCGGTTTGGGAGTTGGATTAGGAGTAGGGTTAGGTTTAGGGTTAGATGCTGGACTGGATGCTGGGCCGAATGCTGGACTTGGTGCAGGATTGGATTTAGGTGCTGGACTAGATGCAGGACTAGATGCTGAACTGGATGCTGGACTAGATGCTGGACTAGATGCTGGATTAGATGCTGGACTGGATGCTGGAGTGGATTTGGGTGCCGGAATGGATGCAGGTGGAGATGTTGGGCTTAAGCCTGGAGTTAATCCTGGAGCCAAGCCTGGTCCTTCACTTGGTGTCAAGCCAGGGCCAAAACCAGGGCCAAAACCAGGAACAAAACCTGGAACTAGTCCTTCTGGCAAACCTGTAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa29325
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:
Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091076 | Missense | 583 | 747 | 12 | 18 |
ENSDART00000148312 | None | None | 277 | None | 6 |
Genomic Location (Zv9):
Chromosome 20 (position 16999009)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 17058962 |
GRCz11 | 20 | 16958545 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGTCCCAGGATTAAGATTATCATACATACTTTGTGTTCTTTGCATTTTT[A/T]GTGGTACCGTTCCTTCTGCTCTTCTGCCAGTGTGGGACCGTGAATGAGTT
Long Flanking Sequence:
TGAGGACGCCGATCCAAACGCCACACCTTTCCAATTTGCTCTGATAGAAGAGGAGAGTGTCGGAAAATGGCAGATGGTGCCAATAAACGGTACAGATAAAGAAGGTTTATTGTCTTAAAACCACACAAACTCCAATAGAATTGATAGGACTTCTGTTCTTTTGTCTTATTCACAGGAACCACAGTGAGTTTTCATACACAGGAGACTTTGTGGCCTGGCATTTATGAGCTGACAGTGAAGATCACGGATGCTCAAGGTTTGGCTTGTCCAGACAACCAAAAGTTTGAGGTTGAGGTGTGCAGCTGTGAGGAAAAAAGCTCATGCGGGCCGAGGCTTGCTGCACAGCGCAGCGTCCCACTCAAAATAGGAAAGCCAGCTCTCGGCTTGTTCCTCAGCGGCGCAGCTCTACTCTTGCGTGAGTTATCCAATCACCCAAAACATTTAAACAGGCTGTCCCAGGATTAAGATTATCATACATACTTTGTGTTCTTTGCATTTTT[A/T]GTGGTACCGTTCCTTCTGCTCTTCTGCCAGTGTGGGACCGTGAATGAGTTCACAGATTTGCCATTTGACGCTAAAGAATATCTTATTCCATATCACACTGAAGGCATAGGGGAGGACAAGGTAAAAAAAAAAAAAAGTAAATAATTATAACCTGATTGGACTGGACACTGACTTTAAACAAGGGTGTCCAGTACTGTTCATGAAAGGCCAACACCCTACATATTTTTGCCAAACCAGTTTGACTAGAAGTTTCAGGGTCATATTTTATTGCAAAGGGCTCATTTCTATGATTTAGTCCATTCAAAGGGTTAACCCTTTAGTGTGAGAACTTCAAAGTAATAGAGGAACCAAAAAAAAAAAAAAATAGCTCTGCACAAAGAATTATGAGAGCAAGTTTTTTTTGCAGGTGCAAATTTGTTTTATAACTGGAGTTAACTTGTTAACAAAGGTTTGGCAGTGGAACCAAGCCTCTCTTCCTCTCCTTAACCAATCACCTACTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32282
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000091076 | Essential Splice Site | 631 | 747 | 14 | 18 |
ENSDART00000148312 | None | None | 277 | None | 6 |
Genomic Location (Zv9):
Chromosome 20 (position 16996363)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 17056316 |
GRCz11 | 20 | 16955899 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGACATAAACAATGATGGGTTAACAGAATCTGATGGCCGGATTTGGTAC[A/T]GAGAAAACACAATTTCAACGGCCAACCACCGCAACAGTGCTCTCTATTCT
Long Flanking Sequence:
ATGAAACTCATGTAAACATCCTAATCATGTTATTCTCTTAATCAGATTAAGGCAAATAATTTGATTACTAATGTCCATGTAAACGTAATCACTGATGAGCATTGTTAAGTAGATAAGGCTGAACAGCCTAGAAAAGGTAACCTTTAAATCTTTTTGAGTTTAAAAGAGGTGAGGGGAAATGTTTGGAATGCACACTAGTGAGAGTGAAGAGCTTGATTAGCTGGTTTAGGTATGTTTAATTATGGTTGAACTACACTGTGTAGGTCAGTAGGAATGGTTTAAACACGCCGGTTTTATAATGTAAAATTTTGTTTTTCGTCCTACAGGAGATTCCTGCTCTCAGTGGTCTTGCTGCTACAATAGACCAAAAGCAGCTGCTTCAGGTTTCCAACACTGTATCCAAAATGCACTTTCAAACAAGTGTTGCTAATGACTCCAGAATGCTCAACCAGGACATAAACAATGATGGGTTAACAGAATCTGATGGCCGGATTTGGTAC[A/T]GAGAAAACACAATTTCAACGGCCAACCACCGCAACAGTGCTCTCTATTCTGCATCATTCATTCAAGAAAAGCAAGACATTTATGGGGACATGGCATTAGGAGATGTCTTTCTGAATGAATACTTCTCTCAGGTATGGAATTAATTATATAGCAGCTTATTCATATTTAAGTTAATTCATAATTAAAATAGGGCGTCACGGTGGTGCAGTAGGTAGCACAATCACAGAATGAAAGACGCTGGTTCGAGCCTCAGCTGGGTCAGTTGGCTTTTCTGTGTGAAGTTTACATGTTCTCCAGGTGCTCCGTTTTCCGCCATAGTCCAAAGACATGTGCTATAGGTCAATTGCGTAAGCTTAAAGGGGTGGTCCACTATGATTTCATATTTTAAATTTTAGTTGATGTGTAATGTAGCTGTGTGAACATAAACAACATCTCTGAATGTAAAAATTTCTAAGTTCAATGCAAAGGGAGACCTTGGGTTTTTTACATAGTTAGCTTAA
Associated Phenotype:
Not determined