ZMP
CSMD3 (1 of 2)
Ensembl ID:
Description:
CUB and Sushi multiple domains 3 [Source:HGNC Symbol;Acc:19291]
Human Orthologue:
CSMD3
Human Description:
CUB and Sushi multiple domains 3 [Source:HGNC Symbol;Acc:19291]
Mouse Orthologue:
Csmd3
Mouse Description:
CUB and Sushi multiple domains 3 Gene [Source:MGI Symbol;Acc:MGI:2386403]
Alleles
There are 13 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa17498 | Nonsense | Available for shipment | Available now |
sa42824 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa44861 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa16830 | Essential Splice Site | Available for shipment | Available now |
sa44860 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa22951 | Missense | Available for shipment | Available now |
sa31008 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa19154 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa8930 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa22950 | Essential Splice Site | Available for shipment | Available now |
sa22949 | Nonsense | Available for shipment | Available now |
sa42823 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa9590 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17498
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 |
---|---|---|---|---|---|
ENSDART00000006458 | Nonsense | 111 | 2896 | 3 | 60 |
Genomic Location (Zv9):
Chromosome 16 (position 51167151)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 48021125 |
GRCz11 | 16 | 47957889 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGCCTGATTTTTTTTCTTCTTTTTTTGTTTTGTTTCCTGAGCARTGAAA[C/T]GATCTGGGGATTTTAAGTCAAGAGGAGTCAAATTAYTACCTGGAAAAGAC
Long Flanking Sequence:
CATTTTGATTTCGGGTCACATTTTGACCCCGACAGCTTTCATTTGATTCACCTCTTCCTTAAAAGTAATTACATGTAATATTGGCTAAATCTCGAATCACCTTGCTACTCTTAATCAGCTGATAATTACAATAAATGACTTAATTTCTCATAATGAGGAGCGGAAGGTGGCATGTCAGAAGTTGAATCAAAGCCTGGTCCACAAGTTATTAATTAATTAATTTATTTTTAATTCAGTTGTAGAAATGTAGAAAATTTCAGAGATGAAGGAAGCACAGCATAAGTGTAGAGAGAGAGATAAATTATGAATTGAATGAATAACTTTAAACAGAACCTGGCTGAGATGAGCCAATTTGTTTTGACATTTTAACTTGTTTTCTAATTAACATTTTTGAAACTATTGCTCATGTTTCTGCAGCAGGCTTTAAAAAATCTAATCTACATTTAATGTGTGCCTGATTTTTTTTCTTCTTTTTTTGTTTTGTTTCCTGAGCAGTGAAA[C/T]GATCTGGGGATTTTAAGTCAAGAGGAGTCAAATTATTACCTGGAAAAGACAACACAAGCAAGTTTTCCATCAGTGAGTATGTTTTCATTGTCTTTGTGCAATAAAGTGGCAAGCAATTTTGTAGAACTTGATGTTCTCCCTGTTGAGACAGAATGCACAAGCATACTGCCCGAAAGGCGTTTCAAAGATGGCCGCTAAGTGAAATGACTTGTCTTAAAGGAACTTTGAGTGAACACAGCCACATTTTTGATCACAAAAAAAAAAAAAATACATGAATAAATAAATAAATAAATAAATAAATAAATATTTGTTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATTTAATATTTTATTTTCATTTATTTTCATTTATTTTATTTTTTGTTTTAGTTTCATTTATTTTGTTGTCATTTATTTTTTATTTTATTTTATTTTATTTTATTTATTTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42824
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 |
---|---|---|---|---|---|
ENSDART00000006458 | Nonsense | 276 | 2896 | 7 | 60 |
Genomic Location (Zv9):
Chromosome 16 (position 51145939)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 47999913 |
GRCz11 | 16 | 47936677 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGGATATGATACATTGACTGTCGGAGACGGCGGAGAAGTTGGAGACTCC[A/T]AAACAATCATACAAGTGTAAGATTAATAGTTATGTTGTACTTTATATTAC
Long Flanking Sequence:
TTGGAAATTTGTTTTACCCTCAACATCGGTTGGCCTGTGCAAATGATTTGTTGGATAATTGATGCGTTGCCCCTGCTGAATTTTTCCGGTTATGGCAACGTGCTTCAATCGGGGCCGCAAGAGGGTTCGCAAAACAAAATGGCCTGAAATATACTGGGAAACATATGCCGCAGTCGAGTCCTGGCCCCGGTGAGCTCATGAATATCATATTTATTGAAAATACTGTGTGCTGTTTATATCTGAAGCGTCTAGTGCTGAGAAACTTAATTAAGACTGAGACTCTGAGAAACACAGCATATGGAGAAATCCCATTGGTTAAGGTGCTTCATTGATTCGAGTGGGGTTCCTCTTAAAAAATAAATAAGTAAATAAATAAAAATCTGCTGATTTTGTCTATTTTTTTTCCATTGCAGGTTATTCAAATCAATTTCGAAGAGTTCGACTTGGAACTCGGATATGATACATTGACTGTCGGAGACGGCGGAGAAGTTGGAGACTCC[A/T]AAACAATCATACAAGTGTAAGATTAATAGTTATGTTGTACTTTATATTACAGTGTAAAACCTGATAAATAAAGTTACCACAAGCTGTTTAAGTTTAAAACAATATGGTGATCTACTCTTATCTTCATCTGTATATTATATATTATATTATTTGCCTCCCCCTGTTATTTTTCCTCAATTTGTTTAATGAAGGGCAGATTTTATCAACACATTTCTAATCATAATATATTTATTAATTCATTTCTATTGACTGATTTATTTGATCTTTGTCATGATGACAGTAAATAATATTTGACTTGATATTTTTCAAGACACTTCTATACAGCTTAAAGTGACATTTAAAGGCTTAACTAGGTTATTTAGGTTAACCTCAGCACCACAACGCAGACGCACTGTGGCACTGTATTTCCAAATGTCAATGTATATGAATAGATTACATAAAAAATAACATGAGAAATCTTCACAAACTGAACATCAATTTAAAGCTACAATCCTCAAACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44861
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000006458 | Essential Splice Site | 281 | 2896 | 7 | 60 |
Genomic Location (Zv9):
Chromosome 16 (position 51145921)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 47999895 |
GRCz11 | 16 | 47936659 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGTCGGAGACGGCGGAGAAGTTGGAGACTCCAAAACAATCATACAAGTG[T/A]AAGATTAATAGTTATGTTGTACTTTATATTACAGTGTAAAACCTGATAAA
Long Flanking Sequence:
CTCAACATCGGTTGGCCTGTGCAAATGATTTGTTGGATAATTGATGCGTTGCCCCTGCTGAATTTTTCCGGTTATGGCAACGTGCTTCAATCGGGGCCGCAAGAGGGTTCGCAAAACAAAATGGCCTGAAATATACTGGGAAACATATGCCGCAGTCGAGTCCTGGCCCCGGTGAGCTCATGAATATCATATTTATTGAAAATACTGTGTGCTGTTTATATCTGAAGCGTCTAGTGCTGAGAAACTTAATTAAGACTGAGACTCTGAGAAACACAGCATATGGAGAAATCCCATTGGTTAAGGTGCTTCATTGATTCGAGTGGGGTTCCTCTTAAAAAATAAATAAGTAAATAAATAAAAATCTGCTGATTTTGTCTATTTTTTTTCCATTGCAGGTTATTCAAATCAATTTCGAAGAGTTCGACTTGGAACTCGGATATGATACATTGACTGTCGGAGACGGCGGAGAAGTTGGAGACTCCAAAACAATCATACAAGTG[T/A]AAGATTAATAGTTATGTTGTACTTTATATTACAGTGTAAAACCTGATAAATAAAGTTACCACAAGCTGTTTAAGTTTAAAACAATATGGTGATCTACTCTTATCTTCATCTGTATATTATATATTATATTATTTGCCTCCCCCTGTTATTTTTCCTCAATTTGTTTAATGAAGGGCAGATTTTATCAACACATTTCTAATCATAATATATTTATTAATTCATTTCTATTGACTGATTTATTTGATCTTTGTCATGATGACAGTAAATAATATTTGACTTGATATTTTTCAAGACACTTCTATACAGCTTAAAGTGACATTTAAAGGCTTAACTAGGTTATTTAGGTTAACCTCAGCACCACAACGCAGACGCACTGTGGCACTGTATTTCCAAATGTCAATGTATATGAATAGATTACATAAAAAATAACATGAGAAATCTTCACAAACTGAACATCAATTTAAAGCTACAATCCTCAAACAGCAAGTTATTAGGCAAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16830
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000006458 | Essential Splice Site | 1009 | 2896 | 19 | 60 |
Genomic Location (Zv9):
Chromosome 16 (position 51083292)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 47937266 |
GRCz11 | 16 | 47874030 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATTCTGACCAAGAGGACACGGCTGAGGGATTCAAGCTTGCTTACACTAG[T/A]AAGATTCCTCTTGCTCTCACTTTCTTCCACACCGCTNNNNNNNNNNNACA
Long Flanking Sequence:
ATGTTTGTTGAAAAAATCTTTAACGACATTATTAGAAATCCTTATAGAGTATTTGTCTGAAACACTTGTTGAAAATTAGTTTTACATAAAAAATCTTAGTTTTAGTTTCAACATATAAACATAAATAAAACTCAATAGCAACTATATAACCAAAATAATAACTTTTATATTTCCTATATTATATAAAACTATAACAACTCCATAACGTTTATATAACCAAGATGAAAATTACACTTGAAAAGAACTTCAGAAAACATCCTTTGAACATTTGCATAACGTTCCTACAACACATTTAATCTGTGCATAGAAATCGCCAGAGATTTTTCTGTTTTCTCTCCCCAGTTGTATGACGGTCCGGACAACACTGCAGATGTTCTAGGAGCTTTCTCTGGGTCCTCCATGTTGAGTCAGTCACTGACCAGCACGTCGAATCACCTGTGGCTTGAGTTTTATTCTGACCAAGAGGACACGGCTGAGGGATTCAAGCTTGCTTACACTAG[T/A]AAGATTCCTCTTGCTCTCACTTTCTTCCACACCGCTTGTGGAAAACTACAGTTTGAAATATTTTTCCTCCGTCTGTCACGACTAGTCTTACACTACATGACTTCAGTAGCTCTTTGCAGGCTTCCTCCCCGGTGTAGCTTGTGGAGTGAAAATAAAGTTTGGGTTCAGTTGAGGTGTTTCAAATACAACTTAAAAGTCTTCTGAACAGTTTACAGACTCCTCAAACTAGTCGAGTGTCGCCCACAAGCGATCAGATAATCGAGTGGGACACACAGCATCAACTTGGCTTGACTAATATTTCATACTTGATGAGCTTTGATGATAATTCAATTCAGCCCTGCTAAGACTGCAGATGACTGTACTTTTATTAGTCCCATCAGGAATTTTATAAAGTTGCAATTTACAAAGGCCTTTCATACAATGCTTCACCATCATTTATTGATAAATGAGAGGCTGCTATGGGAGTGTTACTATGGGAGCATTTTTGGTATCTGACAAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44860
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000006458 | Nonsense | 1126 | 2896 | 22 | 60 |
Genomic Location (Zv9):
Chromosome 16 (position 51051970)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 47905944 |
GRCz11 | 16 | 47842708 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAAATCTGTTCCTTTAGTTTGCAGTTCCTGGCATTTGATACTGAAGCAT[C/A]GCATGATATCCTGAAGGTTTGGGATGGACACCCGGAAAATGAGATGGCGC
Long Flanking Sequence:
ATTATTATTATTATTATTATTAAGTAGGATATTGTTTAAAGCAAGATACACCAAAGAGAGAGGACCTTAATGCTTTTATTATTTTTAATAATTACAACTTTGAATGTTAGAATGTTCTAAATGAATAGGCTATAGGGTGGATAAGTGGGAATGGATCACAGACAGGAACTGTGTTCTAATTACAGCTAAAGAGGTGTAGTTTTAAGTGCTCAAGTTTGCGACGCAGTTTGCGAATGTTCGTTGGAGAAGTCTACAGCACAACTTTGTAATGTATATTGGCAGATTGAGGGGAATATATTAGATAATTTGTGAATTGTGTGAGATGATGAGCTACATACAAGGTCTGGCAACTTGACTAACATGGAAAAAAAGTTATTTTTTGAAAATAGATACAAATTTGATTGGATTACAGAGCATACTTTTAGTCTGAATCTGTAACTGGATCTAAACTGAAATCTGTTCCTTTAGTTTGCAGTTCCTGGCATTTGATACTGAAGCAT[C/A]GCATGATATCCTGAAGGTTTGGGATGGACACCCGGAAAATGAGATGGCGCTGAAGGAAGTGAGCGGTTCACTGTTACCTGACGGCATTCACAGCACTCTCAACGTGGTCACCATCCAGTTTGAGACTGACTTCTACATTAGCAAATCTGGTTTTGCCATTGACTTCTCAAGTAAGTAACTTTATAAATGTTTTTATTTATATTTCTTTTTGAAATCAGTTCAGCACTGAGGTAGCTTATTAAATTAAAAAGGTCATAACTAATGAAGCCATTTAAATGAAAAGCTATGCATCATTAGTAGGAGTGAATGGCGTGACAGAAATTGTATATAATATTTTGTACTGGAGTCATTTTTAAAGTGTGGTAATGATGTATATGTGCATTCTGTTAAAATTAGAGTTGGTTCGGTTGATTCCTCTTTAATGAAGCATTTCAGTACACATATTGTACAAGGTTGTTTGTTTCTGTGAGGTTATATTAGTGCATAGACTAAAAAAATCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22951
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:
Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000006458 | Missense | 1597 | 2896 | 30 | 60 |
Genomic Location (Zv9):
Chromosome 16 (position 50989486)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 47843460 |
GRCz11 | 16 | 47780224 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGCAGTGCCCAACTCACTCGCCCAGTGGAACGGCACTGTGCCAGCATGT[G/A]TCGGTATGTCCACCCACACACACACACAAATACAAATCTGTCTGCTCAAC
Long Flanking Sequence:
AATCCTGGACTTTTGTCAGGTAGTGTGTGTTACACTAAAACACTTTTTTTTAGCTGCTTCTTCAAAGTAAATATTTAAAATAAGCTATAATGATACAATTCTTGAGTTTTTTTAGGACAACCTAATTGTTTTAGGTTAAATCCTTTTAAATTTGTTAAAACAAGTATGTCAACTTAATCATTTTTATGTTGGGACAACGTAAAGGAATTGTGTGGAACCTAGCATTTATTTATTTTTTATTGTGCAGCCATAATTTGCATGGTGTTTTGAAGTTTACTTTTTTATTTTTTGTTTGTGCAGCTGTTCCGAGGACCAGTGCCTCTCAGTGCAGCTCTGTACCCGAGCCTCGCTACGGGAAGCGCATTGGGAATGACTTTGGATTGGGAACGGTTGTGCTTTTCGAGTGTAACCCAGGTTATACTCTCCATGGTGCCAGTGCCATCAGGTGTGAGGCAGTGCCCAACTCACTCGCCCAGTGGAACGGCACTGTGCCAGCATGT[G/A]TCGGTATGTCCACCCACACACACACACAAATACAAATCTGTCTGCTCAACAGTGCCCCCTGCTGCTGGGGAAGACAGCAGCTATTTAATTTAATTCTAGTTTTTTATTTATACAGTTGTTTATACTGCAAGGAATTTTTCACAGTTTTTCCGCCTAAATTTCTTCTTCTGGAAAAAAGTCTTCTTTATTTCATTTTGGTTAGAATAAAAGAAATTTTTATATTTGTTTTAAAACCAATATGATTAGCCCTCTTATGCACTATATTTTTGAATTGTCTACAGAACAAATCCCTGTTATACAATGACTTGCCTAATTCCCCTAACTTGCCTAGTTAACCTAATTAACCTACTGTAGTTAAGCCTTTTCAGCTCACTTTCACACGAACTACAAATCCGCCATGTTATGGACTACAAGATCCAGTCATGCAACACACACACACAACCGGTTCCTGATACTGACTGATAGCAAACACGCAGCTGATGCTGCTCAAGTACTGATTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31008
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 |
---|---|---|---|---|---|
ENSDART00000006458 | Nonsense | 1629 | 2896 | 31 | 60 |
Genomic Location (Zv9):
Chromosome 16 (position 50969082)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 47823157 |
GRCz11 | 16 | 47759941 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTCTCCGGGTTACCCTGATCCCTATGACAACCACCTCAACTGCGTCTGG[A/T]AGGTCTTTGTGCCAGAGGGAACCGGAATACAAGTGAGACCAAATATATAT
Long Flanking Sequence:
TGTTTTGTTTACGCAATTTAACTTAATTATTTATTGCTTTCTATTTAATTCAACTATTTCATTTTATCACGTTTTGCAATTATTTTATAATGTCATGATTTCATAGTGAACTTTTTAGTCTTAACATACTTTTTTGTGACTTAAGTGTAGTTATTTGCATCAATTGTCTCGTTTATGTTCTGACATGTTCACTTCATCTGACATTTGAAGATGTTACTTATTTAATTTTTGTATTTTTGTTTGTCTGTTTCAGTTTGTGATTTTCATTCAGTTATTCGTTTTATTAGGCTTACTATATTATTTTATTAGGCTTTTAGGCATATGTCTAGTCACAGACAGGTTTTGATTACTGCCTTTGGTTGGTTGTGTTTAATTAATTGTGTGTATTTTCTGATCTCTGTTCTTTAGTTGCGTGTGGAGGAGTTTTGACCACGCGCCGAGGCACCATCCTGTCTCCGGGTTACCCTGATCCCTATGACAACCACCTCAACTGCGTCTGG[A/T]AGGTCTTTGTGCCAGAGGGAACCGGAATACAAGTGAGACCAAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATCTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19154
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000006458 | Essential Splice Site | 1633 | 2896 | 32 | 60 |
Genomic Location (Zv9):
Chromosome 16 (position 50968318)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 47822393 |
GRCz11 | 16 | 47759795 |
KASP Assay ID:
2261-0327.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATATATATTTATATCTTCCTAAAAACATTCAAAATCATGATTAGTTCCA[G/T]TGAGTTTGGTTACTTAACGCTTGCCAAGAGATAATAATTGTATCAAGGGA
Long Flanking Sequence:
TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATCTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATCTCTCTATATCTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTTATATCTTCCTAAAAACATTCAAAATCATGATTAGTTCCA[G/T]TGAGTTTGGTTACTTAACGCTTGCCAAGAGATAATAATTGTATCAAGGGAATCCTATCATTATCTACTTTGCCTTATTATTGAGCTTCTGAATATTATATTTTTGTCTGTTCTCTGTGATGTCATTAAAAAAAAGGATAGTAATAGTTGATAGTGATATTAAATTAATAGTTTACACAAAATAAAGTAAAAAATACTCACTATTTAATGGTATTTACTCACTTTTTATTGAGTCCAAAGCTCTGTTTGGTTACTTTACTTTCACTTTTGTGAAATGAACACCACTAAACTTGGGAGGGTGAGAAGTGAATTGGATCACGTAGCCGAGTCTGACCCTCCACATTAGCCACAGCGATGGGCTGGGCAGCGCTAACCAGGCTGGCAGAGGTTGCACTAAAGGCATCATCGGATCGATTGCTGACATGCCAGCGGAGGGGCAACTCGGGTGGGGAGTGCTCACCCTGGGAAGTAGAGCGGCCCGAGCTGGAAGGCAGAGTGTCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8930
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000006458 | Nonsense | 1879 | 2896 | 42 | 60 |
Genomic Location (Zv9):
Chromosome 16 (position 50940289)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 47794364 |
GRCz11 | 16 | 47729450 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCTTTCACAGCGACTACTCCCAGAACAAACCCGGCTTCCACATCACCTA[C/A]GAGGGTAAGACGGRTTAGACCTGCCCTCAGCCATTACTTCCCCTGTCCAT
Long Flanking Sequence:
ATCTTATTTTAATCTCATAAGTTTAAAAAAAAGAGACTTATTGTCTTTAAATCACTCCAATATGACTGTATACACACTATACCTATACACAGTGCTGTCAAAACAGCTTATTAAAGATAGCTCGTAAAACCATAGGTGCCCTTGAAGGTGCATTATTATTATTATTATATTACAATAGCTATTGTTTCAAAGCTTTACACATCATTGCATTACCATCAAATTCAGAAAAGTTGAGGTTATTCATTACCATAACTTCAGTTAATAACTAATCAACTAATTCCTGTATACGATCCAGGGATTCACCTGCAGTTCCTTAACTTCTCCACGGAGTCTGTACACGATTACCTTGAGGTCCGGAGCGGGACGCTGGACTCAGGATCAGTGATCGATAGGTTCAGTGGACCTGTTGTTCCCGAATCTTTCTTCAGCACGACCCACGAGACCAGCTTCTTCTTTCACAGCGACTACTCCCAGAACAAACCCGGCTTCCACATCACCTA[C/A]GAGGGTAAGACGGATTAGACCTGCCCTCAGCCATTACTTCCCCTGTCCATACAGACACACACCACTGGAGCCCTTCACACACAGTAACAGGATGGGGAATATACGCAATTGTTCTTTTTGAGTTCAGTCAAAGGCCTTTTAAAGTGGGTCAGTTTATCTGTGTAACAGCCGCAGGTGGAGGTTTTCTAGTCAGGCTTGCACAATGTGAAACATTGATGTTGTTTCTCAGTATTTTTATATTGTTAGGGTTAGGTATGCATTTACTTTAGAAGATAAATAATTTTATTATGTCTTGTTTTATATATACAAAAAAATATTGGGATTAAATTATTGTGAATAAAACAAGAGTTGATGTTTAAGACAAAAAATATTTAACCTTCCTGTTGTGTTCGTCTCAAATCTGACCGATTTACAACTTAAAACACTCACAAATATTATGTTTTAAATCTGATTCCCTCAAGGCCTTGTGATATTCTTGTGATATTGATGTTAAACATAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22950
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 |
---|---|---|---|---|---|
ENSDART00000006458 | Essential Splice Site | 1881 | 2896 | 43 | 60 |
Genomic Location (Zv9):
Chromosome 16 (position 50936932)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 47791007 |
GRCz11 | 16 | 47726093 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTCTTTTTCTTTGTTGTTTATCACTTCTTAAAACCAACTGTTTTTCTTC[G/A]ACCATCCAGCCTATGAACTGCAGAGGTGTCCGGATCCACGGCCCTTTCGC
Long Flanking Sequence:
ACTATCATTATTAACGTTACTGTTGTTGTTATTTATTATTATTTTATTTCATTTTATTTTATTTTTAATTTTTAATTATTGATAGTATTAGTCTTTTAAGTTTAACTTGATTATAATTTAATGTAATGTAAATATAATGTAATTTCAATATTAATTTTTTATTTATTTGCATTTTTTGCTAAGTTTTGTGTCGGTCTGTCATTGATTACTGGTGTCCATATAAACGCACTCATTGTTTCAAAACAATGACAATAAAATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTGTTATTTGGCTTAATTAGTATTAGTTATTTGGCTTTGTAACACTTCTAGTATTCCTTTCATTTCATTTTCAGTTTTTTTATTATTATTATTTATGTATACTTCATTGTTTCTAAAGCAAAACCATTTCTTTTTCTTTGTTGTTTATCACTTCTTAAAACCAACTGTTTTTCTTC[G/A]ACCATCCAGCCTATGAACTGCAGAGGTGTCCGGATCCACGGCCCTTTCGCAATGGTGTGGTGATTGGCAGTGATTTTGGAGTGGGCATGACCATCTCCTTCCAGTGTCTGCCAGGATACACGCTGCTGGGTGAATCGTCGCTCACCTGTCTGCATGGTGTCAGCCGAAACTGGAACCATCCTGTGCCTCGCTGTGAAGGTATACTTATCAAAAAATGTACCTTTAATGTGGAGTTTGCATGTTCTCACCGAGTTGACGTGGGTTTCCTCCGGGTGCTTCGCTTTCCCCCACAGTCCAAAGACATGTGCTATAGGTGAATTGAATAAATCAAATTGCCCATTGTTGTTTGAATGTGTATGTGAATTTCAGCGGAAAGGTCGTCAGCTGCTAAATACATAAGCCAGAATAGTTGGCGGTTCATTAGGCTGTGGTGACCACTAATAAATCAAAATCTAAGTCAAAGGAAAATGAATGAATGAATGATTCTGAACTGCCTGATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22949
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 |
---|---|---|---|---|---|
ENSDART00000006458 | Nonsense | 1938 | 2896 | 43 | 60 |
Genomic Location (Zv9):
Chromosome 16 (position 50936759)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 47790834 |
GRCz11 | 16 | 47725920 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGCTGGGTGAATCGTCGCTCACCTGTCTGCATGGTGTCAGCCGAAACTG[G/A]AACCATCCTGTGCCTCGCTGTGAAGGTATACTTATCAAAAAATGTACCTT
Long Flanking Sequence:
TTTTGCTAAGTTTTGTGTCGGTCTGTCATTGATTACTGGTGTCCATATAAACGCACTCATTGTTTCAAAACAATGACAATAAAATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTATTCTGTTATTTGGCTTAATTAGTATTAGTTATTTGGCTTTGTAACACTTCTAGTATTCCTTTCATTTCATTTTCAGTTTTTTTATTATTATTATTTATGTATACTTCATTGTTTCTAAAGCAAAACCATTTCTTTTTCTTTGTTGTTTATCACTTCTTAAAACCAACTGTTTTTCTTCGACCATCCAGCCTATGAACTGCAGAGGTGTCCGGATCCACGGCCCTTTCGCAATGGTGTGGTGATTGGCAGTGATTTTGGAGTGGGCATGACCATCTCCTTCCAGTGTCTGCCAGGATACACGCTGCTGGGTGAATCGTCGCTCACCTGTCTGCATGGTGTCAGCCGAAACTG[G/A]AACCATCCTGTGCCTCGCTGTGAAGGTATACTTATCAAAAAATGTACCTTTAATGTGGAGTTTGCATGTTCTCACCGAGTTGACGTGGGTTTCCTCCGGGTGCTTCGCTTTCCCCCACAGTCCAAAGACATGTGCTATAGGTGAATTGAATAAATCAAATTGCCCATTGTTGTTTGAATGTGTATGTGAATTTCAGCGGAAAGGTCGTCAGCTGCTAAATACATAAGCCAGAATAGTTGGCGGTTCATTAGGCTGTGGTGACCACTAATAAATCAAAATCTAAGTCAAAGGAAAATGAATGAATGAATGATTCTGAACTGCCTGATATCAGTCAGCAGTAATCCATAGATGTTTGTTTCCTTATTTTTAATTTCCCATAGAAAGTATAGAAACATTCTTTCATTAGGAAAAGATGTCCAAGCTTTGAGTAAAATTACAGTATTCATAAAAACATAAAATATGAGGATGTAAAAAATAATAATTACATTGAAAATAAAATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42823
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 |
---|---|---|---|---|---|
ENSDART00000006458 | Essential Splice Site | 2119 | 2896 | 47 | 60 |
Genomic Location (Zv9):
Chromosome 16 (position 50915640)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 47769715 |
GRCz11 | 16 | 47704801 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGGCTGGGCGAGCGGCTGCAGATGGATGGTCCTCCCCCAGTATGCCAAG[G/A]TTAGTTTGGCAGCTCATCCAGCACGCCTTCTCATTTGTGTCTGTGTTCTT
Long Flanking Sequence:
ATGATGGGATTTGTAGTTCATAAAAGTGGCAAATGCAGTTCACCAGTAAACTGCCAGGACTGGATGGCTGATAAGTGTAACGTTAATTCATGATTTATAGTTATTTATTCAAGTAAAACACAATTTTAGTTTTATTCTGTAAAACCACCAATGACGTTCATTCCAGATTTCAATGAAAAACTTTTTGCCATGCTCCCACCTTTCGCCACACAGCACTGCTTTATTTAATGTGAAATAAATGCCCCTTTCTGTGGAGAAAACAACACTCGACGCTCTGCATTTGTCATCATTACTGTCACCAGTGTGTAAACGCTCAGGTCTTAATTAGCTAATGTGTTGTTGAGCTGGTTGTAGCACTGATATGGCTGTGTGTAATTCCTCAACAGGAGACATCATCAGGTACCGCTGCCTGCCGGGCTTCACGCTGCTGGGGAGCGAGATCTTGACCTGTCGGCTGGGCGAGCGGCTGCAGATGGATGGTCCTCCCCCAGTATGCCAAG[G/A]TTAGTTTGGCAGCTCATCCAGCACGCCTTCTCATTTGTGTCTGTGTTCTTCCTGTTTTTTTATTTTGGGGGGGGGGGGGGGGGGGGTGGTTATGTCTCACGTCGTTAGCTCTGCCACTAGTCATTAGGCTCTTTTGGACTTCCGAAATGAGGAAAGCGTGGGACGGCACAGTCATTGTGTTTAAGAATTTACAGCATGATACTGTCTTGAAGTCCACAGTGTTATTAAATTATCAGTAAGTTAATACTGTAGTTTTTGTTTCTTTTTTTTCTGTTTTTTTATTAAAAGTTTTGATTGTTATTATTACTTATTAACTACTTCAGTTTTTATTAATATTTAAAAAATTTTATGTTTAGTTAACATGAGAAATTTCTGTTAAAGAGCCCATACTATGGGTTTTTGAAAATTCCCCTCCATGTAGTGTGTAACACAGCTCTAAGTGAAGTGAAGTATCCAGCTAAGGCTTAAATCTGTAAGAGTACAGTGTTTAAAACGGTTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9590
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 |
---|---|---|---|---|---|
ENSDART00000006458 | Nonsense | 2703 | 2896 | 57 | 60 |
Genomic Location (Zv9):
Chromosome 16 (position 50865044)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 47719119 |
GRCz11 | 16 | 47654205 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACAGGTGTTTAGAAGACAGAGTTTTGATTGGTGAATCCACCCGAGCCTGC[C/T]AACTRAACGGCCAGTGGGGTGGCTCGCAACCTCATTGCTCAGGTAAGATG
Long Flanking Sequence:
AGTTAAGTAAAAGCACCAATGCTGCTCTAAAAATGTATTCAAGAGAAAGTAAAAAGACACGTTTTATTACAATTCCTGAGAAAAGCTACTTAATTACAGTAATTTGGGTATTTGTAATTTGTACCTTTGTACAGCACAAGGACGGGACTTGATTTGTCTTGTTGACATGAGAATGTGAACTTGGTGATGACATGACAACAATCATCCAATCAGAATGTGGCATATTAGCCAAAATAACCAATAAAACAAGAAGCATGAAGTAAAAGTACATGAGGAGTGCCTAAAATGATAGACATTAAAACAAGAGACATGGTGCGTAGACCTATCTGTTTAATTATCATGTCATTTATTTATTTTTTTCTTCTGCAGAGGTGGACTGTGGTCACCCTGGTTCTCCTCCTCATGCGGTTGTAACAGGAGACAAATTCACCTTCGGTTCAACAGTTCACTACAGGTGTTTAGAAGACAGAGTTTTGATTGGTGAATCCACCCGAGCCTGC[C/T]AACTGAACGGCCAGTGGGGTGGCTCGCAACCTCATTGCTCAGGTAAGATGCATCAAATGTTAAAGGTCCCATGACGTACTTCAAATGTGCATTTTTATTCGATGTATATTGTGGAAAATAGTACCTCTTTCCCTCATTGAAAAACAACTTTATCAGTGAGACCGGTTGAGATCAAGTGCATCAAATGAAAAGCAAATGAGAAGTGTCTTGAAGGGGGCGGGGCATGTCAGATACTACAGAGCATTTGATTGGTCAGAAGATTGGATAAGAAACTGAAGTATGAAGGGATGTCTAAAAAATTGTTAGCCATAACATCAATGCCATGCGAAGTCTAAGATTAGCAAGATTTTTATTTTAAATACACATACACACACATACATGTGCACACAGAGAGGAAAGGTTGTGTTGTCAAGCCACCTACCTATATAAAGCACACTCAGAATTGCATGATGTTTTCCCAGAAACATAGAGTGTTTAAAAGAAAGGGTCTGGTGCATATG
Associated Phenotype:
Not determined