ZMP
dscaml1
Ensembl ID:
Human Orthologue:
DSCAML1
Human Description:
Down syndrome cell adhesion molecule like 1 [Source:HGNC Symbol;Acc:14656]
Mouse Orthologue:
Dscaml1
Mouse Description:
Down syndrome cell adhesion molecule-like 1 Gene [Source:MGI Symbol;Acc:MGI:2150309]
Alleles
There are 11 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa30683 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa5877 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa44822 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa42500 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa30989 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa39037 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa42501 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa22596 | Nonsense | Available for shipment | Available now |
sa22597 | Essential Splice Site | Available for shipment | Available now |
sa32018 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa30683
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079647 | Essential Splice Site | 84 | 2144 | 1 | 33 |
Genomic Location (Zv9):
Chromosome 15 (position 13232974)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 12297843 |
GRCz11 | 15 | 12229260 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATGGCATGTGGCTGGTAACTTTACTCCTGCTGTATTCTTTTCAAGAAGG[T/C]ATGTAGTGAGTTTATTTATTGCGGCTTTTTTATTACTTTATAATGTTGAT
Long Flanking Sequence:
AATCAGTCATTTAGTTCCCAGGTGCGCACTGGGTGCCACAGAATGCCCTTGCTGTCTCCAGCCACGTGGACCGCTCACAACAACAACAACAACAACAACAACACATTAAGTCCTGTCCTCTCGAATGCACTCAACCCACCCCCACCAACAAAACTCCGCGCGCCGTCCTCTTCGCGTCTCACTCTGGCCCCGCACCAGCACCTCTCCATCCCGCCGTACCATTAGACTACCGAAGGAGGGGCCGCTCGAATGACGGTCCCGCGGATGGGAGGGTACGAGAGGCGGGACCAAAGTCTTCCCTGCTTCTCGGTGCTGGAGAGTCCGGGACTAGGGCTGGAGAGATCGCCGGGGAGCATCGTCACCACTCCTGCACGGAGCCTAGCCTGGCCAAATACTGCACGGTGCACACGTCGGGATTGCAAAACATTCCTGAGAAATATACCTGCTATTTATGGCATGTGGCTGGTAACTTTACTCCTGCTGTATTCTTTTCAAGAAGG[T/C]ATGTAGTGAGTTTATTTATTGCGGCTTTTTTATTACTTTATAATGTTGATGTGTATCTGTGCAGCTTATTAACTTAAATGAAGTAGAAATGTGCATGTACAGTGGATGGTTATTTAGCGTAAATCCATCGTGCGCTCTCGTTTTAGGATTTTATAAAGTTTCTCTGCAAAACTAACGCAACTTCGTTGAAAATGTTTTTTTCGGTCGCATAAAATGTGTAAAATCGTTTTTGTAGTTGGTAATTAACGAAGAACGGAAGATTATGAGGCTGTAGGATCTGCATGTTCCCGTGCGCAAAGATGGGGGAGATAGCATGATTTGTATGCAAGATATGAATATGCTGTTGAGTTATGAATATGTAGAACGGGAGTAGATATTTTGCATCGGTCTTGTGTATTTGTCATACTTTTGGCCTTCTGTTTGTGTTTCTTTGTAGAAAAGTAGAGTTTGTTGGTGAGGTGTGAATTTGTTTTGTCTGGGTATACTTTTTTTTTTTACTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa5877
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 |
---|---|---|---|---|---|
ENSDART00000079647 | Essential Splice Site | 663 | 2144 | 8 | 33 |
Genomic Location (Zv9):
Chromosome 15 (position 13349442)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 12181375 |
GRCz11 | 15 | 12112792 |
KASP Assay ID:
554-3864.1 (used for ordering genotyping assays)
KASP Sequence:
CATCCAACCCCAGCTCTCCATCAGCCAGACTGTCTATGTCACAGTKAAAG[G/A]TTGGTGCTTACTGCTTATCATTTARGGAATGTTTAAGTCCTTGCAAAAGT
Long Flanking Sequence:
ACTCTTCTCCTTTCTTCTTCCCATATATCTCTTTCTTTACCCAAAATACCCATGCAAAACCTGGTCTCCCATCTCCCTCTCTTTCTCAAATCCTTCTCTTTTACCCTTGTCTACCTTCCACATTCTCCCTCTTTTTTCTCTTCCTCTTTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTTTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTCTCTCTCTTGCAGGTCCTCCCAGTATCCGGGCCATGCGGAACATTACAGCTGTGGCTGGACGTAACACATTCATTAATTGTCGTGTGATTGGGTACCCCTATTACTCCATCAAGTGGTATAAAGATGGGATGCTGTTACCAGACAACCATCGCCAGGTTGTATATGAGAATGGCACTCTGAAGTTGAGCGATGTGCAGAAGGGCATGGATGAAGGGGCGTATCTGTGCAGTGTGCTCATCCAACCCCAGCTCTCCATCAGCCAGACTGTCTATGTCACAGTTAAAG[G/A]TTGGTGCTTACTGCTTATCATTTAGGGAATGTTTAAGTCCTTGCAAAAGTCACATGCTTTCAATATTAATTCAAAAGCCGAAAAAGGCACAGTAAATTTGATTTGGGGTCTGTTTTTTGGGAAAATTGAAGATTGTAAAGCTGTTGCATAGGTGCATAATTATTAACCAAACAAAAACACACAAATAGTTGAGTATGACACATATGGGAAAGCATGACATTATATTGGCAAAAGTTTTTGGACACCCTGTTCCAATCACTTACATTGTCACATGTATATGAAATCAATAATCTAGACATGCACACGGGTTTTACAATCATTTGTGAGTAAATGGGGTGCTCTCAAGAGAAGTAAATTCAAGCATGGTACTTGGATAAATTGCCATCTGTCCAAGCATAAAATAGTTTTACAACTAAATATTCAAGTATATTGTTAATTGTATTTAAAAAAAAAAACAAAGAAGCAATTGGAAACAACGCTAATAGAATCACAGAATTATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44822
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 |
---|---|---|---|---|---|
ENSDART00000079647 | Nonsense | 996 | 2144 | 14 | 33 |
Genomic Location (Zv9):
Chromosome 15 (position 13357944)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 12172873 |
GRCz11 | 15 | 12104290 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGCAGAGGTTTGACGGCAACAGCATAATCACCAGCTATGACATTGAGTA[C/A]AAGAACAAATCCGGTGCGCCATTGCTTTGTTTCCATTTCAAGCTTGGATG
Long Flanking Sequence:
CAAAGAACCAACCATCCTACTATTGACCTCTATACATCATACAGCAACAAATAAAGTAGGGCCTAGGATTAAAATCTTTTAAACACTTTGACAATTTTCTGCAGCTGAAGCCAGCAGAGCGTGGGGATTCTGTCTTTTTCTCCTGCCACGCCATCAACTCATACGGCGAGGGTCGAGGGCTCATCCAGCTGACAGTGCAAGGCAAGACAATCAGCCATGAACAACACGCTCACATCTTACATGATACTCTTTATCTAGAGACACAAAATCAATAATTTACCTCCCGGCCCCAAGCCACCGCTTACTTTTCAGCTTCTCTGCCTTTTTCTCGGTCTCAATCCTCCACTGTCTGTTTGAAGTCTATTTCCTTTTGTTTTGTTCACAGAACCCCCTGACCCCCCAGAGCTTGAGGTTCGAGAAGTCAAAGATCGTAGTATGAACCTAAGGTGGACGCAGAGGTTTGACGGCAACAGCATAATCACCAGCTATGACATTGAGTA[C/A]AAGAACAAATCCGGTGCGCCATTGCTTTGTTTCCATTTCAAGCTTGGATGAATTACATTGTGAAAGTGCATTAAATATGTATTTGTATGTCAGAAGAATATGTAGCGAATAAGCTCACAGTACAAGAAGATGAATGGGAAGTGAACAGATTTCTGTGGTGTTGCGACTCGAGCATATTGCCTTATTTTGCTGTTTGTACATCTGTGTTTGTCCTAGTTTTCTGTGCATTGCTTGCTTTTCATTTCCGTATGATTTGACCTGTAAACAGTCCTCTTTGCATGCTAGCAAACATAATGTTCCAGAACAGCTAGGATGGAGTTGTAGTAATGTATCTGTGTTATTTTGTCCTTGTCGTAGACCCGTGGGAGCTGAAACATGCCACCCGTAAGATCTCACCCACTAACAACCAAGCCAACATAGTAGAGCTCCACCCGGCGTCTGTCTACAGCATCCGCATGTACTCCTACAACAAGATCGGACGCAGTCAAGCCAGCAAAGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42500
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 |
---|---|---|---|---|---|
ENSDART00000079647 | Nonsense | 1552 | 2144 | 26 | 33 |
ENSDART00000079647 | Nonsense | 1552 | 2144 | 26 | 33 |
Genomic Location (Zv9):
Chromosome 15 (position 13388191)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 12143412 |
GRCz11 | 15 | 12074829 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTGAACACTATAAAATGTGGTGTTTTTTGTTTTTGTTTTTCAGAGCCA[C/T]AGTTCAATAAGGACCAGCCTCTCTTCACTCACATCAACTCCACTCATGCA
Long Flanking Sequence:
CTGATTTTAATATGAATGTTAGCATTTAAACACCCTTAATGCGTTTATGCCTTTATTAAGATCATCATGTTAATGTTTACTTTCACCATCTCATTTATCTCAGGAGTTTCCCTGAATAAGTTATTTCTCTTAACATTAATAATTAATGTTAATAAAAAGCTACATAAAAAAGTACACAAAAACTTCCCAACTCCTTAATTCAGCCGCAATGACTTCTGAGACTTCTAGAGCAAGCTTTGCATCAATCATCCTCGATATCAAGAACGCATGCGGGTCTTTTCACACATCCTCCGTTCTTGCAGTCTTAAGTTTTGGAACTGAACTTTGGCGGTTTATGATGACGATACACGACAACACAAGCAAGAATGCATATTAAAAAACAGCCAAAACTTATTGTTGTGAAGCCATTGATAAATTTTCTTCCTAAATTGTTCCTTTAAAACATGACGTTTTTGAACACTATAAAATGTGGTGTTTTTTGTTTTTGTTTTTCAGAGCCA[C/T]AGTTCAATAAGGACCAGCCTCTCTTCACTCACATCAACTCCACTCATGCACGCATGAACCTGCAGGGCTGGACAAGTGGGGGCTGCCCCATCACCGCTGTCCTGTTAGAGTTCCGCCCCAAAGGCACCTGGGCCTGGCAGAGTGTGCGCACCAACGCCTCGGCAGACATCTTCCTTGCAGAGCTGCGTGAGGCCACCTGGTATGAGCTGAAGATGAAGGCCTGCAACAGCGCCGGCTGTGGAAACCAGAGCTCCCAGTTTGCCACTCTGGATTATGATGGGAGTAAGTTCCAAGAGAGAGCAAACCTTTCTGAAAAGATTGCTTGTTTTTTTGCACAACTGAAACAAACTCCAAATAGATTTTACTGTAGCATGAGTGTGTTTGAAATTACATCACGCCAGTTCATTCAGGCATAAAACAGATTGGAGCCTTAAGTCAAGTAACTTGATTGTCATTTAGTACTTGTACGGATATACAAATATAAATCCTCCAGGGCCTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa30989
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 |
---|---|---|---|---|---|
ENSDART00000079647 | Nonsense | 1552 | 2144 | 26 | 33 |
ENSDART00000079647 | Nonsense | 1552 | 2144 | 26 | 33 |
Genomic Location (Zv9):
Chromosome 15 (position 13388191)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 12143412 |
GRCz11 | 15 | 12074829 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTGAACACTATAAAATGTGGTGTTTTTTGTTTTTGTTTTTCAGAGCCA[C/T]AGTTCAATAAGGACCAGCCTCTCTTCACTCACATCAACTCCACTCATGCA
Long Flanking Sequence:
CTGATTTTAATATGAATGTTAGCATTTAAACACCCTTAATGCGTTTATGCCTTTATTAAGATCATCATGTTAATGTTTACTTTCACCATCTCATTTATCTCAGGAGTTTCCCTGAATAAGTTATTTCTCTTAACATTAATAATTAATGTTAATAAAAAGCTACATAAAAAAGTACACAAAAACTTCCCAACTCCTTAATTCAGCCGCAATGACTTCTGAGACTTCTAGAGCAAGCTTTGCATCAATCATCCTCGATATCAAGAACGCATGCGGGTCTTTTCACACATCCTCCGTTCTTGCAGTCTTAAGTTTTGGAACTGAACTTTGGCGGTTTATGATGACGATACACGACAACACAAGCAAGAATGCATATTAAAAAACAGCCAAAACTTATTGTTGTGAAGCCATTGATAAATTTTCTTCCTAAATTGTTCCTTTAAAACATGACGTTTTTGAACACTATAAAATGTGGTGTTTTTTGTTTTTGTTTTTCAGAGCCA[C/T]AGTTCAATAAGGACCAGCCTCTCTTCACTCACATCAACTCCACTCATGCACGCATGAACCTGCAGGGCTGGACAAGTGGGGGCTGCCCCATCACCGCTGTCCTGTTAGAGTTCCGCCCCAAAGGCACCTGGGCCTGGCAGAGTGTGCGCACCAACGCCTCGGCAGACATCTTCCTTGCAGAGCTGCGTGAGGCCACCTGGTATGAGCTGAAGATGAAGGCCTGCAACAGCGCCGGCTGTGGAAACCAGAGCTCCCAGTTTGCCACTCTGGATTATGATGGGAGTAAGTTCCAAGAGAGAGCAAACCTTTCTGAAAAGATTGCTTGTTTTTTTGCACAACTGAAACAAACTCCAAATAGATTTTACTGTAGCATGAGTGTGTTTGAAATTACATCACGCCAGTTCATTCAGGCATAAAACAGATTGGAGCCTTAAGTCAAGTAACTTGATTGTCATTTAGTACTTGTACGGATATACAAATATAAATCCTCCAGGGCCTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39037
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 |
---|---|---|---|---|---|
ENSDART00000079647 | Nonsense | 1689 | 2144 | 27 | 33 |
Genomic Location (Zv9):
Chromosome 15 (position 13388966)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 12142637 |
GRCz11 | 15 | 12074054 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCTGGTCACATTGGGTATGGCTCTGCTCTTTATTATCCGCAAGAAACGC[A/T]AGGAAAAAAGACTCAAGAGACTCAGAGGTGAGAGCAAAAGAGGCAGGAAA
Long Flanking Sequence:
TGATGGGAGTAAGTTCCAAGAGAGAGCAAACCTTTCTGAAAAGATTGCTTGTTTTTTTGCACAACTGAAACAAACTCCAAATAGATTTTACTGTAGCATGAGTGTGTTTGAAATTACATCACGCCAGTTCATTCAGGCATAAAACAGATTGGAGCCTTAAGTCAAGTAACTTGATTGTCATTTAGTACTTGTACGGATATACAAATATAAATCCTCCAGGGCCTATAATACAGGACAGCACAAAAGAACATGCCCAATTAGCAGTTAAATCAATTAATTAAGCTGTTTTAGGTCTGAATTTTAGAGATAACGGACCTTGACATGAGCACTATCTCGATCTATTCACTTATCTGTGTTTTCTCTCCTCCGCAGGCACAATTCCGCCTATTAAGTCAGCACGAGGGGAAGGAGATGATGTTAAAAAGCTTTTCTCTATCGGCTGTCCTGTCATCCTGGTCACATTGGGTATGGCTCTGCTCTTTATTATCCGCAAGAAACGC[A/T]AGGAAAAAAGACTCAAGAGACTCAGAGGTGAGAGCAAAAGAGGCAGGAAAATGTACTTTACATTTAAATATTCAGTAAAAGTATATTATTATTTTTATTAAATAATTTCAAAGCTTCTTTTTGAATATTCTATTATGTCATATGTTGTATTATGCAACTTTACAGTTTTTTTTTTTTTTTTTTTATGAAATGCTTCTTATTTCCCATGCAGATGCGAAGAGCTTGGCTGAGATGCTTATCAGGTAAGGATATAGTTAATAGTCTCTATACAGAACTCAAAAATTAAAACGGCACATTAATTGAATCTGAGGAACTGGCAGTGGCAATACTTTTTTTCCTCTGTCTTTGTGTGTGTCTGTCTGTGTTTGTTTTGCACCTGGAGCAGTAAGAACAATCGAAGTTTTGACACTCCAGTAAAAGGCCCACCTCAGGGACCTCGACTACACATTGATATCCCACGCGTGCAGCTTCTTATTGAGGATAAAGAAGGAATCAAACAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42501
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 |
---|---|---|---|---|---|
ENSDART00000079647 | Essential Splice Site | 1698 | 2144 | 28 | 33 |
Genomic Location (Zv9):
Chromosome 15 (position 13389176)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 12142427 |
GRCz11 | 15 | 12073844 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTACAGTTTTTTTTTTTTTTTTTTTATGAAATGCTTCTTATTTCCCATGC[A/G]GATGCGAAGAGCTTGGCTGAGATGCTTATCAGGTAAGGATATAGTTAATA
Long Flanking Sequence:
ATCCTCCAGGGCCTATAATACAGGACAGCACAAAAGAACATGCCCAATTAGCAGTTAAATCAATTAATTAAGCTGTTTTAGGTCTGAATTTTAGAGATAACGGACCTTGACATGAGCACTATCTCGATCTATTCACTTATCTGTGTTTTCTCTCCTCCGCAGGCACAATTCCGCCTATTAAGTCAGCACGAGGGGAAGGAGATGATGTTAAAAAGCTTTTCTCTATCGGCTGTCCTGTCATCCTGGTCACATTGGGTATGGCTCTGCTCTTTATTATCCGCAAGAAACGCAAGGAAAAAAGACTCAAGAGACTCAGAGGTGAGAGCAAAAGAGGCAGGAAAATGTACTTTACATTTAAATATTCAGTAAAAGTATATTATTATTTTTATTAAATAATTTCAAAGCTTCTTTTTGAATATTCTATTATGTCATATGTTGTATTATGCAACTTTACAGTTTTTTTTTTTTTTTTTTTATGAAATGCTTCTTATTTCCCATGC[A/G]GATGCGAAGAGCTTGGCTGAGATGCTTATCAGGTAAGGATATAGTTAATAGTCTCTATACAGAACTCAAAAATTAAAACGGCACATTAATTGAATCTGAGGAACTGGCAGTGGCAATACTTTTTTTCCTCTGTCTTTGTGTGTGTCTGTCTGTGTTTGTTTTGCACCTGGAGCAGTAAGAACAATCGAAGTTTTGACACTCCAGTAAAAGGCCCACCTCAGGGACCTCGACTACACATTGATATCCCACGCGTGCAGCTTCTTATTGAGGATAAAGAAGGAATCAAACAAATAGGTCAGTGTGTTTGCATATAGCCAAGTCATAAACTAGTGTAATATACTTGTAAAAAATAATAAATGTAAATTATATATGTTTTAAAAAATATTTTAGTTCAAAACTTTGGGATCTGAATGTTAATTAATGAATATTTAAATAGTTCACCTTAAAAAATTAAGCTACGGCTGAACAAAATAACTCAAAGCGGCTTTTTAATCAATATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22596
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 |
---|---|---|---|---|---|
ENSDART00000079647 | Nonsense | 1897 | 2144 | 32 | 33 |
Genomic Location (Zv9):
Chromosome 15 (position 13390438)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 12141165 |
GRCz11 | 15 | 12072582 |
KASP Assay ID:
2260-8194.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGAGGAGTTGGCCAGAGCATACGAACATGCTAAGCTGGAGGAGCACCTA[C/T]AACATGCCAAGTTTGAGATTACAGAGTGCTTCATCTCCGATAGCTCCTCT
Long Flanking Sequence:
AACTCAGAAACTCATCCCATAATAGGCTGAATAGTGGAGAATGTTTCACACACCATCTCGTTTTACTTTTCCCAGATCCAGTATCGAGGAAGAGTGTGAAATCTGCACACAGCACAAGAAACCGCTATTCAAGCCAGTGGACTCTGACTAAATGCCAGGCATCCACACCTGCTCGCACTCTCACCTCAGACTGGCGGACAGTGGGCTCGCAGCATGGCATTACAGTTACAGAGAGTGACAGCTACAGTGCCAGCTTGTCCCAGGACACAGGTCTTACACAAATTTTACTTATTTATAGTCTGTCTATTTTGATCATATTATGTGTAGTTTAAATGACTCTTTTTTTGCCAATCAATTGATTATCAACACATTTACACTCTCTTTGTCCTCTTGTGTCCTCAGATAAGGGACGTAACAGTATGGTGTCTACAGAAAGTGCGTCTTCCACATACGAGGAGTTGGCCAGAGCATACGAACATGCTAAGCTGGAGGAGCACCTA[C/T]AACATGCCAAGTTTGAGATTACAGAGTGCTTCATCTCCGATAGCTCCTCTGATCAGATGACCACTGGCACCAATGATAACGCAGACAGCATGACCTCTATGAGCACGCCATCTGAACCAGGAATCTGTCGCTTCACTGCCTCTCCACCCAAACCACAGGATTATGACCGTGGCAAAAACGTGGCAGTGCCCATACCCCATCGAGCCAACAAGAGTGAGTTGATGATGTATTCAGGTGCTTTTAGAGGAGCACTCCACTTTTTAGAGAATATGCTCAATTTACAAGTCCAGTTAAACAGTTAAGTTTTACTGTTTTTGAATCCATTCAGCCAATCTCTAATTCTGGCAGGAGCAATTTTAGCTTGGCATAAGTTACTGAATGAATTGTCCTTTTAGCAAAGTACTTGTCGAGACAATAATATTGATTAAAGAAATGAAATTCTGATTCTTTCATGAATAATCTGGTTACAGTATGTTCACAAAACCATAAGTTGTCCCATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22597
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 |
---|---|---|---|---|---|
ENSDART00000079647 | Essential Splice Site | 1967 | 2144 | 32 | 33 |
Genomic Location (Zv9):
Chromosome 15 (position 13390652)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 12140951 |
GRCz11 | 15 | 12072368 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGACCGTGGCAAAAACGTGGCAGTGCCCATACCCCATCGAGCCAACAAGA[G/A]TGAGTTGATGATGTATTCAGGTGCTTTTAGAGGAGCACTCCACTTTTTAG
Long Flanking Sequence:
TGGCATTACAGTTACAGAGAGTGACAGCTACAGTGCCAGCTTGTCCCAGGACACAGGTCTTACACAAATTTTACTTATTTATAGTCTGTCTATTTTGATCATATTATGTGTAGTTTAAATGACTCTTTTTTTGCCAATCAATTGATTATCAACACATTTACACTCTCTTTGTCCTCTTGTGTCCTCAGATAAGGGACGTAACAGTATGGTGTCTACAGAAAGTGCGTCTTCCACATACGAGGAGTTGGCCAGAGCATACGAACATGCTAAGCTGGAGGAGCACCTACAACATGCCAAGTTTGAGATTACAGAGTGCTTCATCTCCGATAGCTCCTCTGATCAGATGACCACTGGCACCAATGATAACGCAGACAGCATGACCTCTATGAGCACGCCATCTGAACCAGGAATCTGTCGCTTCACTGCCTCTCCACCCAAACCACAGGATTATGACCGTGGCAAAAACGTGGCAGTGCCCATACCCCATCGAGCCAACAAGA[G/A]TGAGTTGATGATGTATTCAGGTGCTTTTAGAGGAGCACTCCACTTTTTAGAGAATATGCTCAATTTACAAGTCCAGTTAAACAGTTAAGTTTTACTGTTTTTGAATCCATTCAGCCAATCTCTAATTCTGGCAGGAGCAATTTTAGCTTGGCATAAGTTACTGAATGAATTGTCCTTTTAGCAAAGTACTTGTCGAGACAATAATATTGATTAAAGAAATGAAATTCTGATTCTTTCATGAATAATCTGGTTACAGTATGTTCACAAAACCATAAGTTGTCCCATTTGCTATTTTAGCTTGCAGAAGGGTGCTTGCAAGTCCATTTATGGCAGATACAGTATGTTCCCCTTGATGTGCACTTCGCACTGAGGGAAGGTCCAGAGTAGACCTCTACCCAGTAAAGAGGCATTACACCACAAAAGCACAGACTCGGTGAAAGGGCTTAGGATGCCATTTCAAATTGGGCCAATGGCCACAATATTGAAGGGTCATTCTAAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32018
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000079647 | Nonsense | 2100 | 2144 | 33 | 33 |
Genomic Location (Zv9):
Chromosome 15 (position 13391846)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 15 | 12139757 |
GRCz11 | 15 | 12071174 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCCCAAGTGGGGCAGTTGCCGCTGGAGCAGGAGCGAGTGCAAGCTCCACA[G/T]GAGGCAGCGGCCCGACGCCCGGGAGCTCCAAGGTTGGAGGATCCAGAGAC
Long Flanking Sequence:
AAACTCACCAGTTTAAGTCCAAGTAACTTGTAAAATGTTATTTAGCCTTCTTATTGTCAATAATAGATAACAGTATTATGATATAAATGTATTTATTTCCTGCAGGTGAGTACTGTAACCTCCCCCTATACATGAAGACGGACCCTTTCTTCCGAAAACAGGCAGAACTGCACGATCCCTGCCCGGTGGTCCCGCCTCGCGAAGCCTCCATCCGGAGCCTCGCTGCCCGGGCCTATCACACACAGGGTCGTCACATGACATTAGACCCCTCCAAACAGCAGGCCCTGACACTGGGCCATGGTGGCTTGAGCAGCCTGACCAGCTCAGGGGCCTCTGGTACATCGGGCCCACCCTCAAGCGGGGCCGCTGGGAGCTCCAGCATCAGCTCAGGCACAGCCACCCTGCCCCAGAGGACTCTCACCATGCCCAGCACCTCCTCCACATCCTCAGCCCCAAGTGGGGCAGTTGCCGCTGGAGCAGGAGCGAGTGCAAGCTCCACA[G/T]GAGGCAGCGGCCCGACGCCCGGGAGCTCCAAGGTTGGAGGATCCAGAGACTCTCTGCTAGAGAGCAGCTCGTCCGGGCTAGGCAGACTGCAAAAGCAGAATGCTGGGGCATACTCCAAATCCTACACTCTGGTGTAGCTCACATACACGTATACGTATACAGATACAGTACATTCACACGCAAACCTGGAGTCTGAGCAGGGGCGGAAATAAACAATGGCAGGACAGGGGTCTCTTTCTCTCCTTTCCTCTCAGTTACCTTAATTTGCTTTTCTTTTTAATCTTCTGCTCAAGCTTTTTATTCAGCCTTCTCCAGGATTAAATATGCCAAACCCCAGGAACCTTTCCCTTATTTTGCCTTTTTTTTATTACATTTTTGTCCTTCTCTCTCACTTTCTTCCCCACTCGCCTTTCTCTTCTCTGTCAAAGACACCTTGGACCTTATGCACGAAATGCTTTCCATGTGCATTTGTTCATTTGATTTCTTAACCAGAAAATAGG
Associated Phenotype:
Not determined