ZMP
LOC100331283
Ensembl ID:
Human Orthologue:
OTOF
Human Description:
otoferlin [Source:HGNC Symbol;Acc:8515]
Mouse Orthologue:
Otof
Mouse Description:
otoferlin Gene [Source:MGI Symbol;Acc:MGI:1891247]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa28936 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa14223 | Nonsense | Available for shipment | Available now |
sa43010 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa17767 | Essential Splice Site | Available for shipment | Available now |
sa13068 | Nonsense | Available for shipment | Available now |
sa16297 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa28936
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 |
---|---|---|---|---|---|
ENSDART00000041685 | Essential Splice Site | 429 | 1801 | 10 | 41 |
Genomic Location (Zv9):
Chromosome 17 (position 50892202)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 50283019 |
GRCz11 | 17 | 50362088 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATGAGCTCCACTGAGGTGCAGGTGGAGGGGATACCCAACATCTCTGATG[T/C]AAGCAATCTACTAATTACAGTCAATAATTCATCGTCTTTATTTATCACCC
Long Flanking Sequence:
TTTGCTTTTTTGCATTTACTTAACATGTAAATCACTCGCGTTTGACACTTCTTCCGCATCTGGTGTGAACGCAGCATAAGATGTTTTTGTCATCCAGGATCACATATAATCACAGAGAAATAGTTATTTATATGCAGTAAATAAATTCACTATGATGAAGACAACTTATTAAAAATAATAATAATAATAATAAAATAAAATGAAAAAAATAGAGCGACTCCAAAATAAATAATAAGGAATGATAAGTGTTCAGTGTTCCCCTGGTTCATTCGTAGGCTTTCTCCCGACTCTTGGCCCGGCGTGGGTCAACATGTACGGCTCCACGCGCAGCTACACGCTCATGGATGAGTATCAGGACCTGAACGAAGGCCTCGGGGAGGGCGTCTCCTTCAGGGCACGTCTGCTGATCAGCCTGGCCGTGGAGATCCTGGACACCTCGTCTCCTGAAGTCATGAGCTCCACTGAGGTGCAGGTGGAGGGGATACCCAACATCTCTGATG[T/C]AAGCAATCTACTAATTACAGTCAATAATTCATCGTCTTTATTTATCACCCCCTACATTATTTATTTAGCAGCGGTGCTCATAGTAGATCATTGTTTGGAAGACAATCATCTACACAGTCAGAGCCAAAGTTAGGCTTTGTCTTCATGTGATTAACATACTAAGGTGCAAAAGAAATGACGTGGTAAATTTGAATATAGTGTTAATAATTTGCAAATAAACATCCAAGTAATCGCAAACTAAAACAGTTCAACAATATTTGTTTACTAAAATAAAGTAGGGCGACACGGTGGCTCAGTGGTTCGCCTCAAAGCAAGAAGGTCGCTGACTTGAGTCCAGGCTAGTCCAGTTGGCATTTCCGTGTGCCGACCTTTTAATCGATTGTTTGTTTCTTATATCCTAGAATGCCACAGGAAAAGTGGAGGAATTCTTTCTCTTTGGAAGTTTCCTCGAGGCCACCATGATTGACAGGAAGATCGGAGACAAACCCATCAACTTTGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14223
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 |
---|---|---|---|---|---|
ENSDART00000041685 | Nonsense | 540 | 1801 | 13 | 41 |
Genomic Location (Zv9):
Chromosome 17 (position 50886668)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 50277485 |
GRCz11 | 17 | 50356554 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGCAGGAATTATTTCCMCCTGCCGTACTTTGAGAGGAAGCCCTGCATCTA[C/A]ATCTACAGCTGGTGGCAGGACCAACGACGACGACTTTATAATGCTAACGT
Long Flanking Sequence:
CATACACCTGAAGTGCTTTGCAATCATGAGGGGGATCTCTCTACCCATTAAAAGGGTCAGTCTTACCAACTGACTAGCAACCACCTTGATGTGTTTATCACCCTATATCACCCTTTTTTAAACTACTTCAAACGTTCAGACTAGGTTTTCTCAAGCCAATATTAAAGTTTGTCTTTACTATCTAGTTGATGTTACTGCAGGGGTGTCCAAACTCGGTCCTGGAGGGCCGGTGTCCTTCACAGTTTAGCTCCAACTTGCTTCAACGCACCTGCCAGGAAGTTCCTAGTATACCTAGTAAGAGCTTGATCAGCTGGTTCAGGTGTGTTTGATTAGGGTTGGAGCTAAACCCTCCAGGACACCGGCCCTCCAGGAACAAGTTTGGACACCCCATAGGTCATCTTATTTTGCATTTTAGTGTAAGCTCATGTGATGCATCGAGTTCATTTATTCTGCAGGAATTATTTCCACCTGCCGTACTTTGAGAGGAAGCCCTGCATCTA[C/A]ATCTACAGCTGGTGGCAGGACCAACGACGACGACTTTATAATGCTAACGTCTTGGACAAAATGGCAGATAAACTGGTAACAATAACAGAACATGAAAAATTAAATAAATAAATTACAAATAATACACAAATACAGCGGAAAATGAGTTGTGAAAATGGGAATTTTTCCTGGGAGTCATATTTCTTAAGGAGCTGTTAATGTAGAATTGACCCAGACCCAAACAAAACCCAATGACTTATGTGTAGTAGCAATGAAATGACACAAGGAGAAAGTACTGGACTAATAAAGATATTTAATACTGCATTTGAAAGTCTTTTTAAATGATGGCAGCTTTCAATACGCCTCTCATATGTAGAATGAGGTCACGTGCATTGCTCAGGTTTTCTTTTTTTTTCACTGTCTTCAACAGATTGTAAAAATCTTGATAGTTCTGTGGGTCTCGTCTATTAAATCTGATCTTTATTTTGTATTCTCTATTGGATTCAGCTTGAGTTTCTTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43010
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 |
---|---|---|---|---|---|
ENSDART00000041685 | Nonsense | 761 | 1801 | 18 | 41 |
Genomic Location (Zv9):
Chromosome 17 (position 50880977)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 50271794 |
GRCz11 | 17 | 50350863 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCTGAACAGGCAGCGTAAGGACTATCTATGCGGTCTGCCTAACGGGTTC[G/T]AGGAGAACAAGGCAGTGAAGGGGCCGGGCGTTCAGTCCTCTCCCCCCATC
Long Flanking Sequence:
TCGTACGACTGAACTCATTATTAATTAGCCACTAAACTGGAAAAACGTAAAATACCAGCCTGATCTCATGAGAAAACGTAAGTATTTTACGTTTTGGCAGTTTAGTGGCTAATTCGTACGAATTCGTACGAGTTCAGTCGTATGAAATGGTACGATTTTAAAAAGGAGGCGTGGCACCTAACCCCACCCCTAACCCCAACCGTCATTGGGGGAAGAGCAAATCGTTCTAAATTGTACGAATTAGATCGAACGAATTCATACAAATTAGCCACTAAATGAAAAAGTTACGAATTGCCGTGAGATTGTGTAGAAAATACTCACGTTTTCTCGTGAGATCAGGCTGGATGTGTGATATTACTGTCTTCCTCCTGTCGTAGCTGCCTGGCAAGAAGAGTTTTGGACCTGCGGGCTGGACGGTTCAGGCAAAGACTGAGCTGTACCTGTGGCTGGGCCTGAACAGGCAGCGTAAGGACTATCTATGCGGTCTGCCTAACGGGTTC[G/T]AGGAGAACAAGGCAGTGAAGGGGCCGGGCGTTCAGTCCTCTCCCCCCATCAGCCTGATGTACACCAGTAAGAAACCTGACCGCTCACACCACTGACTTTCACACTGTCTGTCCAAGAGTCCCCCAAAACTCCATTATTTTACACCCACAGTGAAACAGATCTTCCAGCTGAGGGTCCACATGTACCAGGCTCGCAGTCTGTTTGCGGCAGACAGCACAGGCCTCTCGGATCCTTTCGCCAGGATATTTTTTTCGACTCACAGTCAAGTCACAGAGGTGAGACATACATAAGCATTTGAAGCAAATCTGAAATACTTGTGTGGTGAGAATGCACTTCTTGAGCAGGTTGTTTTTAAAAAATGACTCATCTCACGCATAAAAATACCAGGTATTTAAGAAACATGCTAAGAGAACAAAAAGCAATGTTAAAATCAGTTATTCTCCTTCAAAAATGTGCACTCCATGTCTTTATTTTGGTCACTTTAACCAACACACTGCCAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17767
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000041685 | Essential Splice Site | 825 | 1801 | 20 | 41 |
Genomic Location (Zv9):
Chromosome 17 (position 50878952)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 50269769 |
GRCz11 | 17 | 50348838 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTAGGACATGGTGTTARTAWAGCTTTGAATTGTTTWGCTGGTTTCTCTC[A/G]GGTACTGAAYGAGACRCTGTGTCCCACATGGGATCAGCTGCTGGTGTTTG
Long Flanking Sequence:
TGCTGCTGCTTTCAGTAGTATGACAATAAATGTCGCGTAAAATGGTATTTAAACTAACATTGGTAGCATTTAACACTGAATAGAGCCCATAATCAGTATCTGAGGTGATCATTGTCATGTTAGTTTATACTGTTGCGATGTCGCAGAAATTGAAATGAGAAATTTTGCACATGTCGACGTAATAGCTTAGTGGTTAGCGTGCCGACATATGGTGCAGTAGCACGTCAGGGCGTCCCGAGTTCAAATCCCGGCTTAAGGACATTTCCTAACCCTACACCTCTCACTCTCTTTCTCCCAATTCGCTTCCTGTCTCATTACTGTCCTATTTAATAAAGGCAAAAATGCCACATAAAAACTCTTTAAAAAAAGAAGAAAATTCGCCCATTGCTGTAGCAGATGGATGGGATAAAAACTAATTTTAACATGAAAACAATACCTTTGTCGTATGTAGTTAGGACATGGTGTTAGTAAAGCTTTGAATTGTTTTGCTGGTTTCTCTC[A/G]GGTACTGAACGAGACGCTGTGTCCCACATGGGATCAGCTGCTGGTGTTTGATCATGTGGAGCTCTACGGTGAAGCTGGAGAACTGAGAGACGATCCTCCGATAATCGTCATCGAGATCTACGACCAGGACACAGTGGTGAGTCTCCACAGCCTCAGCGTTTACCAACATTGGATCTAGATATGGATTCATAAATGTGCTCTAATCTCACACCTCCCAAGGGGAAAGCTGATTTCATGGGAAGGACGTTCGCTAAACCGATCACCAAGATGTCAGATGAGCACTACGGGCCTCCGCGTTTCCCTCCTCAGCTGGAGTACTATCAGATCTACAGGGGAAACTGCACGGCTGGAGAAATGCTGGCCGCCTTTGAGCTGCTGCAGGTCAGAACAAATCAGTTTTAATCTCAGGATGCGTCTCGGTCAGCTCCTGAGGGTGTGAATCAGTAGGTCGTGTGCACTAATTTGGACACTGGTAAGGGCAGTGACGAGCAGACTGTACC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13068
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 |
---|---|---|---|---|---|
ENSDART00000041685 | Nonsense | 1042 | 1801 | 24 | 41 |
Genomic Location (Zv9):
Chromosome 17 (position 50873067)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 50263884 |
GRCz11 | 17 | 50342953 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CATCCTCCGCTGAACATCCGCGTGGTGGACTGCCRAGCGTTTGGCCGCTA[C/A]ACGCTGGTCGGCTCTCATGCCGTCACAACTCTGCGCAAGTTCATCTACAG
Long Flanking Sequence:
ATATTTAAAGGGCATGTATGACGAGCAAACACAGCCCAACAACATATTTGAGATTGTCAAAATGTACGCAGCGGCCTCTAGTGGATTTGTGAAAAACAATTCAAGCAGACGTCACCTCGGCTATGCAATTTGCGGGTCCTAAAAATGTAGCCCTGGGCATGTATGGCCAATGAGCTTGGGTTGTTTATATCCCAGGATCGGCATATTTATATTAATAATAATAATAATAATACATTTGATTTATAACGCACTTTTACAAATTACAAGATAAAACAAAAGGACAAGTTAAAATCAGCTACCAACTAAGATTCATTCAAAAACTAAAACAGCTATTTAAACGTTAAAAAATGCTCAAAAAGGTATGTTTTATGTTGATTTTGAGCGTTACTCTACAGTCATATGAAAGCATTGGTGTTTTTCCTTCAGGATCTGCCTGAGAATGAGCTCCTCCATCCTCCGCTGAACATCCGCGTGGTGGACTGCCGAGCGTTTGGCCGCTA[C/A]ACGCTGGTCGGCTCTCATGCCGTCACAACTCTGCGCAAGTTCATCTACAGGCCTGCAGACAAGAGTGTCAATAACTGGTCTGCTATGGGTGTGTAGAGAACCGCTGTTAATGTCTGTCTAGTTAAATTATTTTCTTATTGCTTAGAACTTCCTGCATTACAATATAAAATTGGAAAACAGATTTAAACTATAATGCAGTGATCGTTGTTTGCTAATAACTACTGAATTTGCTAATAATATACTAAATGTTTCTTGCTCATAAAATCATTAGAATAGTTATAAGGATTTATTGTAACACATTTAGTTAATGTTAGTCAATGTATTTACAAACAATGACCAATGCATGTTTAGTATTTATTAATAGTAGTTCAACATTTACTAATACATTATTAAAGCCCAACGCTGCGCTGACGTACCATGAAATAATGATGAATGACTTTTTTTTCATTAACTACAGTAAAAAAAATGTTGCTGCTTGTTCAAACTAATTACTTAAAATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16297
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000041685 | Nonsense | 1772 | 1801 | 41 | 41 |
Genomic Location (Zv9):
Chromosome 17 (position 50850490)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 17 | 50241307 |
GRCz11 | 17 | 50320376 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TAAAGGCAATCCGCCATCTCGTCTGCAACCAATACAAGTGGCTGGTCATC[A/T]AAATAGTGGTGGCTCTGCTGCTTTTAGCAATGCTGGGCTTGTTTCTGTAC
Long Flanking Sequence:
TCAAATTATAAAAAATGTACTTACGCATTCTGAATGATCCTAAAAAACACCCTATTCTTAAATAACTGGTTTGTAAATAATGCAATACTTAATTTAGTAATGAAAAATGAATCACTAACAAAGTATGAAAACACAATCATTAAGCACATTGTTCGTGCACTTATAAGTAATTAATAAAGCATGGGTGGCTGTATTTATAAACTGCTTAATGTAGAGCTAATGCTTAACAAATAACCACTTAACTATTTGCTGAAGCTTAACAAATAGTGTGTAAATGTAAAGTGTTACCGAAATAATCTGTGCTTGCTTTGTTGCTAAATTTAAATAAACTGAGATTAAACCCCAGTGCGATCAAAAGTCGCCCAGGGAAATGCCGCATAATTTTACCACACATTTCTCTTTGTCCCACCAGCCGCCCTGACACTGCATTCCTGTGGTTCATGATGCCGCTAAAGGCAATCCGCCATCTCGTCTGCAACCAATACAAGTGGCTGGTCATC[A/T]AAATAGTGGTGGCTCTGCTGCTTTTAGCAATGCTGGGCTTGTTTCTGTACAGTATGCCAGGGTACATGGTGAAAAAGCTACTGGGAGCTTGAGAAGCTTCTCTCTGCAGCGTTTGATAGTCGAATTTTCATTTGGAATGGTGTATTGGTGTGTTGGAGAAGTCATACGCAAACCTACTTTCGTCCTTTGCCTTCAATTATTACTGGTTTGATCATAAACACTACTAAACTAAACTAAAAACACATAAAAACATAATTGTTTGCATATCCAGTGCTGATGTAAAATGTTTTTATATACATCTATAAATTAGTACATTTCTGGGTTTTTCCGATGGTTGGAAGTTGTGTTTCTTCATTGAAATGTGTGTTATTGTGTGCTTTTGGCTGCTGCTAATAAATCAATAAAAACACTATGCATGCATTTTATTTGTTAGGACCCAGAGAAAATCTTGCCATTTTTCTTTCTACAATTGATAGTTTTCAGTCATGTGACCTGTGCGG
Associated Phenotype:
Not determined