ZMP

NP_956202.1

Ensembl ID:

ENSDARG00000000102

Description:

skeletal muscle receptor tyrosine kinase isoform 1 [Source:RefSeq peptide;Acc:NP_001004503]

Human Orthologue:

MUSK

Human Description:

muscle, skeletal, receptor tyrosine kinase [Source:HGNC Symbol;Acc:7525]

Mouse Orthologue:

Musk

Mouse Description:

muscle, skeletal, receptor tyrosine kinase Gene [Source:MGI Symbol;Acc:MGI:103581]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa17664	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa17664

Status:

Available for shipment
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Availability:

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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000000102	Nonsense	268	941	7	18
ENSDART00000064922	Nonsense	268	941	7	17
ENSDART00000111076	None	None	351	None	6

Genomic Location (Zv9):

Chromosome 10 (position 13087274)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	13165365
GRCz11	10	13123484

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GAGCATCTGTGGTGGAGACACTGGTGGGGRAAGTTATACTGTCAGTTCTG[C/T]AAGTGGTKGTCCATAAACCAGCACTCTACACCTKTCAGGCTACTAATCGG

Long Flanking Sequence:

AGAAAAAAATTCTCAAACTGGCTTTTTAAAAAACAGTGATTTTACTGTGAGAGTGACATGGTGGCTCAGTGGTTAGCAATGTCAGATCACAGCAAGAAGGTTGCTGGTTTGAGTCCCAGCTGGGACAATTGGTATTTCTGTGTGGAGTTTGTATGTTCTGCCCGTGTTGGCATGGGTTTTTCTGGGTGCCCCCCCACTGTCCAAAGACATGTGGCATAGGTGAATTGAATAAACTAAATTGGCCGTAGTGTATGTGTGTGAACGAGTGTGTATGCATGTTTACCAGTACTGGGTTGCAGCTGGAAGGGCATCTGCTGTGTAAAACATATGCTGGATAAGTTGGCAGTTCATTCTGCTGTGGCGACCCCTGATAAATAATGGAATGAATGAATAATTTTACTGTGATTAAAGGGTGTCTCTGATATTTGTTTTCTTACCTGCAGATTTCCGGAGCATCTGTGGTGGAGACACTGGTGGGGGAAGTTATACTGTCAGTTCTG[C/T]AAGTGGTTGTCCATAAACCAGCACTCTACACCTGTCAGGCTACTAATCGGCACAGTGGAGGAGAAAACACTGTCAAAGCTACAGCAAAGATAACAGTTTCAGGTGAGTCATTTCAATAGGTTGATATTTGCTTTAAAAAAGTATCCTATTGCACTAAATATCAATAATAATAATACTAAAAATAATGACAATAATACATTACATTTATAATGTGCATAAAACCCAAGGCGCTACAACAACAGAAAAATCAAAGCAATAAAATACAAGGATTCAATAAAGACAAATTATAAAATATAAACACATTAGGATGATGAAGAATCTAAAAATGCAGTCTTAAAAAGATACGTTTTTAACAACTTTTAAAGCTAGCCATCAAAGTGATTTTTGCTTTCTCTAAATTTTTCTTTGTTTTTTAAATATACATTAAATGAATAGAGTTTCCTGTAAACAAAATATTTCTATATTTACAAATTTATTTTATTTTAATCAAACAACTGTGG

Associated Phenotype:

Not determined