ZMP

MYOT

Ensembl ID:

ENSDARG00000076312

Description:

myotilin [Source:HGNC Symbol;Acc:12399]

Human Orthologue:

MYOT

Human Description:

myotilin [Source:HGNC Symbol;Acc:12399]

Mouse Orthologue:

Myot

Mouse Description:

myotilin Gene [Source:MGI Symbol;Acc:MGI:1889800]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa10641	Nonsense	Available for shipment	Available now
sa22435	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa10641

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

A > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000115101	Nonsense	116	653	3	11

Genomic Location (Zv9):

Chromosome 14 (position 12509728)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	11945501
GRCz11	14	12251515

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CACCAAAGGGAGTTAAAAACAGTGTTCCACATCCATTCCTTCTCACCAGC[A/T]AGCTGAATAAACAAGTAGAAYCCAAGGGCAGTGCCACGAATGTGGCTGAC

Long Flanking Sequence:

TTGAGATCATTGTGGTCGTAGATTCTAGGCATTGGACAACCACACCAATGTTTGAGCCCAGTTGCCCAATGAAAGTTATGTCAGAGAACGTATGTTGTCTCTGGCACAATGTAAGCAAGCACAGTGAAATTCATCATAATCAGTGATGCTGTCTATGTCTCAATGCATTATTTAAGCATGATTTAGTGTGCCTGTATTTTTAAATTTTACCTGTAAAACATTGTCACGTTGCAAAATGCCTCTTAATAGTCACTAGACTGCATATCATCAGTGACATTTTTTTTTTTTTGCTTGGCATAAGTAATCTAAGTCTAAATGTTCTTTCCAACAGGGTACTGGAGTCTGGCATTAAAAAGGTTGAGTCTCTCCCAGACACTGACAGCGAACAGAGTTCTGTCAGTAAGGTGGCTGAAGATACAAACCTCTCCCCAATGATCAAACTTGATTCTCCACCAAAGGGAGTTAAAAACAGTGTTCCACATCCATTCCTTCTCACCAGC[A/T]AGCTGAATAAACAAGTAGAATCCAAGGGCAGTGCCACGAATGTGGCTGACCTGCCCACCTTTTCACCATCATTGTACCCTCCAAGTGCTTTTAATTATGAGCGCCCTCGCCATTTTATCCAGTCCCTGCCCAGTTTCCACACACATGACACTGAGACCAGCAAGCCAAATGATCTTTGTGTTCCAGCTACAACTCCTGCACCCTTAGTGACCCCTCCTCTTCATGCACCCACTCAGACATTAATGTGTTCCAGCATGACTTTGATTCCTAAAGCAAGGAGTACTCCAAACAGTGAGAATCTATCACCAGCAGCTTTCCTATCATCAGTCCTGCCTTCACCTCCAAGCTGCCAGTCAAAATGCCTTTCCATACCTCAATCACCCAGGCACTCCTCTAGATCACCCAGCCCAACACAAAAGGTCCAAGAACCACCCCTATCTCCTTCAAATCAGTTACGGAATCTCCCTGCCCGGATACCTCCAGATACATTGAAAACTACA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa22435

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC

Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000115101	Nonsense	423	653	7	11

Genomic Location (Zv9):

Chromosome 14 (position 12487618)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	11923391
GRCz11	14	12229405

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GTACAGAAGCCTCTACCATCCAAGAGAAATGTTTTGCTCCTCGTTTTATA[C/T]AAGTGCCTCAAGATGTTACTGTTGAAGAGGGACGATTCTGCAGGATTGAT

Long Flanking Sequence:

ACATGCGGTACAGGTTAATTGGGTAGGCTAAATTGTCCATAGTGTATGAGTGTGAATGGATGTTTCCAGAGATGGGTTGCAGCTGAAATAGCATCCGCTGCATAAAACGTGCAGGATAAGTTGGCGATTCATTCTGCTGTGGCAACCCCAGATTAATAAAGGGACTAAGCCGAAAAGAAAATAAATGAATGAATGAAATTTAGTCTTTCAAATTCAAAACTGTAAGAAAAGCAATAGAGTGCAGATTAACAATCTCCTGTTAAGGGGGTAAATAATTTTGAAAACTCAAAATGTGTATCTAAGCTAAGCATATAAAATAGTTCAGATATAAGCAAGATATTGGTATATTTGTCATTTTGATTAAGTAAATTAGATTTTATTTTTTGGTTTCATTCACTTATTTCCATTTTTTCTTGTGTAGGTCAAGAAAAAAACGATCAGGGGGGGACAGTACAGAAGCCTCTACCATCCAAGAGAAATGTTTTGCTCCTCGTTTTATA[C/T]AAGTGCCTCAAGATGTTACTGTTGAAGAGGGACGATTCTGCAGGATTGATTTTAAGGCAGTTATCATTCTTTTTACTAATATAATAATATCACCTCTATGCATATATCTTAACTGCAGTGTTTGCAAGATATGCAACATCTCACTGCAACGTTCCTGCTCTTATAAGTATATGTCCTTGAGTACATTTTTTATTTAATTGCCTGAAAATGTAGTTTTTTAATATATAAAATATATAATATAGCATTTTTGCTTTTCTTCTTTTTTCTGCAGGTTGTAGGTTTGCCAACCCCAGATATATCTTGGTATCTGGATGGGAAACCCATTCGACCTGATGACTATCATAAGATGCTGGTGTGTGAGAAAAGTGTCCACTCCTTCATTATTGAGATTGTAACCATTCATCATGCGGGTTTATATGAATGTATTGCAAAGAACCGTGCTGGACAGAGCCAATTCTCCCTACATTTGGATGTGATTGGTAAACAGTTTTTTTTCCCCA

Associated Phenotype:

Not determined