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 |
---|---|---|---|
sa14223 | Nonsense | Available for shipment | Available now |
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:
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:
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