ZMP
si:dkey-265c15.2
Ensembl ID:
ZFIN ID:
Description:
Novel protein [Source:UniProtKB/TrEMBL;Acc:B8A5A1]
Human Orthologue:
ALMS1
Human Description:
Alstrom syndrome 1 [Source:HGNC Symbol;Acc:428]
Mouse Orthologue:
Alms1
Mouse Description:
Alstrom syndrome 1 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:1934606]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa16006 | Nonsense | Available for shipment | Available now |
sa10311 | Nonsense | Available for shipment | Available now |
sa11895 | Nonsense | Available for shipment | Available now |
sa42141 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa35425 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa16006
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109126 | Nonsense | 35 | 2105 | 2 | 18 |
ENSDART00000140664 | None | None | 1474 | None | 15 |
Genomic Location (Zv9):
Chromosome 13 (position 8736144)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 9038764 |
GRCz11 | 13 | 9370787 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTCAAMAGCATGGACAAAATATACATGATTCAGAAGTTGAWAGACCATA[T/A]GCAGGCCCTGCGAACGATGGAAGACCATTTAATAACCTTCAGGATTCAAG
Long Flanking Sequence:
TACTTACAATATAGTTTGTAAAGTAATATGTTCTGCCTTTTAGTAGATACATTATATGAGAGACTTGCTTTGTTAACAATAAGTAGATCTAATTGGATTTGCATTGTAAACATTAAATAAAAGTTAAGATTGTATTTTTTTAAATTCATATATTAGGTTTTTAGTTATGATACTTATAAAATCATTCCTCATGAGTCCGCAGATTTTTTTTTACAAAATTCTCTGCTGAAATAGCATAAAATGTTTGCAGATTCTGTATGGCCCTAGTTATGACTCATGTAAGGGGATAGTTCACCCAAAAATAAGAGGTAATGTTTTATTTAAGTGTCTTTATATTCTGTATGATTTGAATGAAGGAAGATTGCAGTTTTTAATTGTTAATTGTATAATTGCTTTGCTGTATGAGTAATATATATGGTTTTACCTTTCCAGACCCCTGCAGAAACTCCTTGTCAAAAGCATGGACAAAATATACATGATTCAGAAGTTGATAGACCATA[T/A]GCAGGCCCTGCGAACGATGGAAGACCATTTAATAACCTTCAGGATTCAAGTATACAGCCAATGATGAACCGATTTGAAATTTTACAACTAGGTAAAGAGAGCTGGTGTATGTACAGTGGGCTTCAAAGATCTGAAATCACATTAAAAACTTAAAAACAAATATATCAAGATACTCTTTGGATAATTGCCAAATCACACTGAAGAGCATTATTAGGCTTTATGCAGCTTGAAGTTTATTTTTTTATATTACTAAAGGTATATTTAAAAAAAGAAGCAAGATGTTTGTTTTTCAGATGTTTGAGTCCTACTGTATATGACGTTGTGCCTTAGTGTTACTTTCAAATATGTTGTTTTAATTTAACTTTCTTAATGATTTCAATTCATTTTCTTTTTCAGAGTTTCAGGATAGCCAGCTGTCACCTGCGCTACCTCTGCTTCCCTGCTTGGACAAATCTAACTTTCTTTCTAACTCCAGTGTTTTTCAGGAAACAGATTTAGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10311
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 |
---|---|---|---|---|---|
ENSDART00000109126 | Nonsense | 448 | 2105 | 4 | 18 |
ENSDART00000140664 | None | None | 1474 | None | 15 |
Genomic Location (Zv9):
Chromosome 13 (position 8739599)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 9042219 |
GRCz11 | 13 | 9374242 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTACKCTCAAACAACATCTAGCAAACCACCAAAGACTGAGCAAACAGTCT[C/A]GCATGCCCATTSTGTYTCAAACGAACACATTTCTCCRGCCRTTTTAAATC
Long Flanking Sequence:
TCGCTCAGATGTGTCAAATATAACGTTTCGTGATTCACAGATGGATACACACCAAACAGCAGATCATCTCCACGATCAACTTCTGACTGCAAGTGGCTCCTTGTCTGCACCAGCAAGTAGGCTCCATGGTGGGAACAAAAGTTCTGACAGTGCACAATCTTTCACCATAGCTGGTGAAGATCTGATACATGTTCCAGGTCTGCAGAGAGCTCTTTTGAGCTCTGGTGGTCGTTTAATCGGAGCAGATGGCTCATTCTTGAGCTCTCAGCCTGTGTTTCAGTCAACACCAGCAGTACCTCCCACGAGACCCCTACCTGCATTGACTAAACCATCTCTCATACACTCCAAACAAAAGGCTGTTGCCTCTGCAGCTACGTTACCTCAAAGCAACCAGTCCAGAACTGGCTTGATGCCATTATTGGATCTAAGCGACCAACATTCCTCTTCTATGTACTCTCAAACAACATCTAGCAAACCACCAAAGACTGAGCAAACAGTCT[C/A]GCATGCCCATTCTGTCTCAAACGAACACATTTCTCCGGCCGTTTTAAATCCAACAGCCGCTGACACATCTCGCTCGGACACTCAGCTTTTTTACTCCAGTACAGAGAAGAAAGATCAAGTTTCTCATTTGGCTCTTGGGAGAGTACAGTCTCTTCCCAGTCTCAGCTACTTACAAAAAGTAGATGCCTGGAAAGCCAATCAGAGTTCGAGCAGATCGTTTTGTGATAATTTGGCCCTGCAAGGAGTTGATGGTGTGTCACTAAAGAAGAAAGCGCAGGATGTGGGATCTGATATATTTAACCAAATGGATTCTCGGGACAAGCATCAGGCACTTTGTATGAATGCCAGCTCGCAATCGATTCAGCAACTTTCCTCGTCTCATTCCGGAAGCGTCTCACCTCGTCGTGTTGATGAAGCTGGGGCAAGTGTGTGTAAAGGACAGGCATCCGATTCACCTGTAATTCGCTCACAATCTCACTCCTCCCTGAGCTCTGTGGTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11895
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 |
---|---|---|---|---|---|
ENSDART00000109126 | Nonsense | 780 | 2105 | 5 | 18 |
ENSDART00000140664 | Nonsense | 149 | 1474 | 2 | 15 |
Genomic Location (Zv9):
Chromosome 13 (position 8740982)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 9043602 |
GRCz11 | 13 | 9375625 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTCGTCGTGGACCAATMAGAGAGCCTGAATTCTCTCCTACTGACTTATG[C/A]ACCATCAAAGGCTCCATAGGAACACCAAYCAAAAGCACACAACCATCWGA
Long Flanking Sequence:
AATCCCGGTAAGTTCAGCACTTAAGAAAGACGAAGGCTTAAAATCGTGACGTCTTGATGATCCATTGTAGGCAGTGGTTTATGTGTGTTGTTGCTGTCTGACAGAAAGGTTTAATTGTCTTTAAATATGAGGCAGCAGTTATATCTTATACAATATTATTTTATTGTATTGCAGGGCTCAAAATTAACCTTTTTTGCTTGGTACCACTAAAAATAAATAGTCTGTTAGAGGTTGCTGTACTTCACAATCCAATTAGTATCCCTAAAAACACCAATAATATGTTTGATTGCTAATAAAAGATGTGTGGCATTCATATGTATTACACAATTATCTAAAGAAAGCAGACCCCTTCAAAAGTTTTGTAATAGTATTGTTCTTTTTTTATCTCTGTAGCTCTACCTCCTAAATTTGGGTATCGACCAATCACCTTCTACAATCCTAAATCCCTTTACTCGTCGTGGACCAATCAGAGAGCCTGAATTCTCTCCTACTGACTTATG[C/A]ACCATCAAAGGCTCCATAGGAACACCAACCAAAAGCACACAACCATCTGAAGGTAAGCCAAAGACTACATTTTGTGCACAGTATTATTGCTTCTATAGTGTAGCTAGTCCTATTCGGTTATAAAGCCATATATCTGTATTTCTCTATAGTGGACAGTCTTCAGAAGGAGACATTCTCCAGCTCTAGTCAACACTCAACTGAATCCAGCGCTTCTGTCTCACACCACCTGTCAGTGCATGAGCTAAGCCAGCCAGCCACTGACAGCAGTGTAAAGGTGATATTAACCCAGGCAGATGCTGCACAGCTTCAGTCAACATCACATCCTTCAACAACCCTACAACAATCTGATGCTGCAGAAAGTGAAAGGAGCTTTAGTTTGCCAGTCCCAGAATCAGGGCCTAGAGAAGTGGTAAAAGCGGATGATGACTCTCTTGTGGGTTCTGGCACACTGCATGAAATCAGGCGTTTGCTGGGCCGAGCAGAAAGCCTGGTATCCGGTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa42141
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109126 | Nonsense | 874 | 2105 | 6 | 18 |
ENSDART00000140664 | Nonsense | 243 | 1474 | 3 | 15 |
Genomic Location (Zv9):
Chromosome 13 (position 8741360)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 9043980 |
GRCz11 | 13 | 9376003 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACAACCCTACAACAATCTGATGCTGCAGAAAGTGAAAGGAGCTTTAGTT[T/A]GCCAGTCCCAGAATCAGGGCCTAGAGAAGTGGTAAAAGCGGATGATGACT
Long Flanking Sequence:
TTTTTATCTCTGTAGCTCTACCTCCTAAATTTGGGTATCGACCAATCACCTTCTACAATCCTAAATCCCTTTACTCGTCGTGGACCAATCAGAGAGCCTGAATTCTCTCCTACTGACTTATGCACCATCAAAGGCTCCATAGGAACACCAACCAAAAGCACACAACCATCTGAAGGTAAGCCAAAGACTACATTTTGTGCACAGTATTATTGCTTCTATAGTGTAGCTAGTCCTATTCGGTTATAAAGCCATATATCTGTATTTCTCTATAGTGGACAGTCTTCAGAAGGAGACATTCTCCAGCTCTAGTCAACACTCAACTGAATCCAGCGCTTCTGTCTCACACCACCTGTCAGTGCATGAGCTAAGCCAGCCAGCCACTGACAGCAGTGTAAAGGTGATATTAACCCAGGCAGATGCTGCACAGCTTCAGTCAACATCACATCCTTCAACAACCCTACAACAATCTGATGCTGCAGAAAGTGAAAGGAGCTTTAGTT[T/A]GCCAGTCCCAGAATCAGGGCCTAGAGAAGTGGTAAAAGCGGATGATGACTCTCTTGTGGGTTCTGGCACACTGCATGAAATCAGGCGTTTGCTGGGCCGAGCAGAAAGCCTGGTATCCGGTCGATCATCATTAACATCCTCCCCTGGTTCACACCGCTTATCGGAAAGTGACACGTCGCTTGTTTCGCTAGGACGAAACGCTCGAGGTTATCACACTGACACATCTCTGTCAGCTGGTGGGAACCTTTCTCTACTGCTGACCCGCTCTTCATCAGACTCTGCTTTGAAAGGAAGCTTGTCATCTTCCCAGGGTCCACAGCATATTGACCTGACAACTGTAAAGCCTGCTGCTCTCTCTTTAAGCAGAGAGGAAAGTTTGAAGGCACGTGACCTCCGTGTGACCCCAAGGCGGGCTGAACCTGAGGGCTGCAGCGCTGCAGACCCAGATAAGGGAAAACCGACTACAACCACATCTGGCACACAGATCAATCTCCCTTCGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35425
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 |
---|---|---|---|---|---|
ENSDART00000109126 | Nonsense | 1754 | 2105 | 11 | 18 |
ENSDART00000140664 | Nonsense | 1123 | 1474 | 8 | 15 |
Genomic Location (Zv9):
Chromosome 13 (position 8757661)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 9060281 |
GRCz11 | 13 | 9392304 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAGTCGCACGTGAAGGAATGAAAAGCGACGGCAGCTTGCTCAGACTTTA[C/A]AACAGCATCAACGCAAAGAAAACAAGTCGAAGGAAACCAAGTACTAAAGA
Long Flanking Sequence:
AGAAGACCCTACAGGGGGAACAAGAAAGGGAAGGACAGAACACCTCATGATGTTAGCCTGGAGATCACAAGTTCGCTAGACCAGCTGTGGCGTCGCTTTAATGAAAAATGGAGCACAGAGGAGTCCCGATCCATCAATGACGGAGAGACGTCTCTGCTAGATAGACTGGAGCGCTTGTCTCGTCTCATTCACAACACCACTCCAACAGACCATAGTGTTCAGCAGTCATCAGACAGTGGCAATGGAGAGTATGACAGGATGAGAAACCAAGAAGAAGAAGAGCAAAGAGAAAGAGTGCAGTTAAAAGCGCCTCCAAAGCATGCGTGGGTTCAGGATGAAGGACAAGGCAAAGTGCATCTCTGTCCTGCTGAGAGAGACGAGTCTGTGGAGACCAGCAGTAGTGTTTCCACTGTGGACACAGAGAGACTGCAGAGAGCTTTTGGAGCTCACAGAGTCGCACGTGAAGGAATGAAAAGCGACGGCAGCTTGCTCAGACTTTA[C/A]AACAGCATCAACGCAAAGAAAACAAGTCGAAGGAAACCAAGTACTAAAGATGCTGCAGTCTCTGTCACAACAGACAATACAGATGACTCCACAGTAAGACTTTTCATTTCTGCTTTGAATTTATTGTGTGTATTTTTAAATATAGTCAAGTCAAGTGATTTGAAAAGTGGTCAACAAATACAAAAAAACATATCTTTATTCTGGAATGCAGTGAGTAATTTGTAAGATCAGAGGTTTATAGGATTAGGAGCCAGATTGAATAATTAATCGCAAGAGGGATCTTATTTTGCAATGTGGACATAAGCTTTTTTTTGCAGTTGTTTTTGAACTTTTATTTTCCTGTGGGGAAAATGACTAGAAAAAAATGGTAGTTAGCCATCAAACTACTGAACTATTCCTACTTTATATATGTACTTTTTTTTTTTTACTAATATTTTATTTGATTTCTTTAGGACAACAGTAGCTATGTTTCCATCCACCTATATTTTGCAAATGCGCAT
Associated Phenotype:
Not determined