ZMP
syne1a
Ensembl ID:
ZFIN ID:
Description:
Novel protein similar to vertebrate spectrin repeat containing, nuclear envelope 1 (SYNE1) [Source:U
Human Orthologue:
ACTN4
Human Description:
actinin, alpha 4 [Source:HGNC Symbol;Acc:166]
Mouse Orthologue:
Actn4
Mouse Description:
actinin alpha 4 Gene [Source:MGI Symbol;Acc:MGI:1890773]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa17206 | Nonsense | Available for shipment | Available now |
sa32292 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17206
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 |
---|---|---|---|---|---|
ENSDART00000063385 | Nonsense | 479 | 1551 | 14 | 35 |
ENSDART00000135213 | Nonsense | 466 | 1277 | 12 | 28 |
Genomic Location (Zv9):
Chromosome 20 (position 26226958)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 26298261 |
GRCz11 | 20 | 26197351 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTGTTTGTGCAGGAGATCTTAAGGCTTCTTGAAAGACACAAACAGACCT[T/A]GCAGTTAATACACCGMGACAGATGTGTTAATAATATGCCTATTCCCACAG
Long Flanking Sequence:
AGTTGGCGGTTCATTCCGTTGTAGCGACCCCGGGTTTATAAAGGGACTAAGCCGAAAAAGAAAATAAATGAATGAATTAAAATAATTTAAAATAATAAAATAAAATAAAACACACTATGGGAGAGCACACAAATTCAAAGAGTTTTTTTTTTTCCGCAGCTCTTGGATTGGCATCTTCAGCTGGACAGCGGTTTGCCACATCCACTGGGGGAGGTCGGTGTGTGGTTACATCAGGCAGAGGAGATTCTGCGAGAGGAACTGATCCCTCAACAAGCCCACGATGAGACCGCCAAAGCTATTCACAAAAAACGACTGCGTGACCAGGTCAAGCATGATTAAAAACTCTCTGTTTCTCTGTATGAATGCTTATGGCGTTGTGGAGAAAGCATGAATGGAAATCTATTAATTAGTTACAAACCTCAGCTTAAAAGTAATCCTGCATACTCTGTGTTTGTTTGTGCAGGAGATCTTAAGGCTTCTTGAAAGACACAAACAGACCT[T/A]GCAGTTAATACACCGAGACAGATGTGTTAATAATATGCCTATTCCCACAGAACAACTGCAAGACATGGCAGAGCGGTAAACATTATAATATATCAAATACTAATAATGATTATATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATTTGAACTGCTTTCAGATTACACTACATATCTACCTCTTCACACATTCACTTGAGCAAACTGGAATTCTGGGAGTCGAAATACAGCATGCTGGCATTTTTAACACTGGCTGAGTCCAAACTGAAATCCTGGATCATTAAATACGGCCGACTGGAGTCAATGGAGCTTCTGCTACAAAGCTATGGTGTAAGTTTAATCCTAAATAGATTACACATAATTACTATTTATTTAAAATGATAAATTATTATTTTAGAATAACTTGTTATAGCCCTCATTTCTTATTGAAATTTAATAAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32292
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000063385 | Essential Splice Site | 1290 | 1551 | None | 35 |
ENSDART00000135213 | None | 1277 | 1277 | None | 28 |
Genomic Location (Zv9):
Chromosome 20 (position 26243430)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 20 | 26314733 |
GRCz11 | 20 | 26213823 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGTAATTTCTTTAAAGAAGACCGGGCAGCTCAAGAGAAACACCTGCAGG[T/C]GAGGCTTTTAGCACAATAATGGTATTCATACATTTGACCTGCCGTGTTGT
Long Flanking Sequence:
GCTATCTACAGGCTTACTCTTTTATGACATTTGGTCTGATGATATTTTGCATGCTTAAACACTGTTTTCTCAGGCTGCTGGAGTGGCCAATGAAGCAAGCGTAAAGACTGAAGAGGAGCTGAAAGAGGAGGTAAACGATGACGATCTGATTCAGATCCAGGAGCACAGACAAATACTGAATGCAGAGAGTGCCACTGAAGCCAAACAGCTGCTCCTCATTCACCAGGTAGAGACTGCACAATTCATTTAGATGACACATATAATGTAATAGACTTGATAAATCTGCTCATCAATTGGATCCGCTAATATGATTGCTGTGAATAAGTGATTTGTTCTGTTATGTGACAATACAAGGGGTGAATCTTAGGATTGTTTGTTTTCTCTTCTGTCTGACCTTCCACAGCAAAATCTGAAGACCCAGCAAGGGAAAGATATGGATGTGAGATGTCAAGGTAATTTCTTTAAAGAAGACCGGGCAGCTCAAGAGAAACACCTGCAGG[T/C]GAGGCTTTTAGCACAATAATGGTATTCATACATTTGACCTGCCGTGTTGTGTGTCAGCTTGTAGTTTGCTTGCTACATGATCCTAGAATTCACTCACTTTCCTTCGACTTAGTCCCTGGTTTATGGATAAATGCCAAATTCCTCCATCAGATATGAGACCTTTTATCAACGTTTACATTTTAAATAAGTGGCAAGAGGAGTGGGATGCAATGGAAAATAATAAATTGTATAAAAACTCAAACTGAATTTTGAGACATTTTAGACTAGATTTGATCAAGTGATTTTTACCAGATGTCGTATTGGACATATAAGATTAGCCCGCGTCTTTTTGCTTAAAGATAAAGACCCCCCTCAATGTTTGTAATGCACAATTCCCCCTTACTGTAAAACACATTTTACTGGACTTTTTTATGAAATGAAATCTCTTAAGGACATTTTTAATAAAGTGACACAAGGAAAATGTATAATTTTTATCATGTATTAACTCTAAAAATCTTATT
Associated Phenotype:
Not determined