ZMP
jph1a
Ensembl ID:
ZFIN ID:
Description:
junctophilin 1a [Source:RefSeq peptide;Acc:NP_001159728]
Human Orthologue:
JPH1
Human Description:
junctophilin 1 [Source:HGNC Symbol;Acc:14201]
Mouse Orthologue:
Jph1
Mouse Description:
junctophilin 1 Gene [Source:MGI Symbol;Acc:MGI:1891495]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa17440 | Nonsense | Available for shipment | Available now |
| sa37845 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17440
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:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000081495 | Nonsense | 431 | 683 | 4 | 6 |
| ENSDART00000131830 | None | None | 380 | None | 2 |
Genomic Location (Zv9):
Chromosome 24 (position 14540853)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 14492301 |
| GRCz11 | 24 | 14636720 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGKTTATGATCTTCCTGACAGGACTGGAATACATCAAGCAGAAGTTCAGT[G/T]AGCCGGTGGAGGAGATTAAAGAAGAAGCACCCAAAGAAGAGGAGAAGAAG
Long Flanking Sequence:
AGGTTTAATCAGTGTGAAATGCAAGTGAATGGATGCGGTAAGTGTTGTCACTGTTAGTGCGTGGATCTAAAACAAAACATAATGCTATAACATAATGGGCATAACTGACCAAACAATCAAAAAACTGCGGTCTAGACGAACTCTTGCAATGCAATGCAACCTAAATAAGGGCGATGATGATCCCAACCAATTACAGACCAAACCAAAACAAAGCAGTCCTAACATATATATATATATATACATCAAAACTCAAATCATTTCAAATGAATCACACCATATTTCACACACACCATATATTGACAAATTTCTTATTGGCTTTTTTTTCATTCAAAAATATTATTAACTGTTATAAAATACCTAAAAAGCAATGCCTTTCTTTACTTTTTTTTTTACCAGAAAAGTGATTTAATTACAGTAACGAGTTATATTTTAACTAATTACACTTAACACTGTTTATGATCTTCCTGACAGGACTGGAATACATCAAGCAGAAGTTCAGT[G/T]AGCCGGTGGAGGAGATTAAAGAAGAAGCACCCAAAGAAGAGGAGAAGAAGTCTTCAGGTAGCCCTTTCTACAGGCGCGGGACGACTCCGAGCCACTCTCCAGCCCAAAGCCCGACCCCATCCCCTCCCCGCACCTCTCAGAAAAGCCAAGCGCAGAACCCCAGCATTAGCCGCAAGATCAGCAAAGACAACAGCGTCACGGCCCGCAAGATCAGCAGAGACAGCACTTCTGTAGCCCGCAAGATCAGCAAAGAAGAGAGAGCCTCCATTGTGGCCGAAATCACCAAAGTATCCGTACCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTGCAGTTCAGACTATCAAGCTGCAGGATGTCCCACCTCCAAAGCCTCCTAAAGCACTTGAACCCGTGGCCAAACCTGCGGGCACAGGTAACGGGCAGCTTCATACTGCCTATCACAGTTATTATGTGAAGCCGGTGAAGCAGTTGCCACCGCCAGAGGAGCCCGAAGATGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37845
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 |
|---|---|---|---|---|---|
| ENSDART00000081495 | Nonsense | 511 | 683 | 4 | 6 |
| ENSDART00000131830 | None | None | 380 | None | 2 |
Genomic Location (Zv9):
Chromosome 24 (position 14540613)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 14492061 |
| GRCz11 | 24 | 14636480 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGCGTCACGGCCCGCAAGATCAGCAGAGACAGCACTTCTGTAGCCCGC[A/T]AGATCAGCAAAGAAGAGAGAGCCTCCATTGTGGCCGAAATCACCAAAGTA
Long Flanking Sequence:
CATCAAAACTCAAATCATTTCAAATGAATCACACCATATTTCACACACACCATATATTGACAAATTTCTTATTGGCTTTTTTTTCATTCAAAAATATTATTAACTGTTATAAAATACCTAAAAAGCAATGCCTTTCTTTACTTTTTTTTTTACCAGAAAAGTGATTTAATTACAGTAACGAGTTATATTTTAACTAATTACACTTAACACTGTTTATGATCTTCCTGACAGGACTGGAATACATCAAGCAGAAGTTCAGTGAGCCGGTGGAGGAGATTAAAGAAGAAGCACCCAAAGAAGAGGAGAAGAAGTCTTCAGGTAGCCCTTTCTACAGGCGCGGGACGACTCCGAGCCACTCTCCAGCCCAAAGCCCGACCCCATCCCCTCCCCGCACCTCTCAGAAAAGCCAAGCGCAGAACCCCAGCATTAGCCGCAAGATCAGCAAAGACAACAGCGTCACGGCCCGCAAGATCAGCAGAGACAGCACTTCTGTAGCCCGC[A/T]AGATCAGCAAAGAAGAGAGAGCCTCCATTGTGGCCGAAATCACCAAAGTATCCGTACCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTGCAGTTCAGACTATCAAGCTGCAGGATGTCCCACCTCCAAAGCCTCCTAAAGCACTTGAACCCGTGGCCAAACCTGCGGGCACAGGTAACGGGCAGCTTCATACTGCCTATCACAGTTATTATGTGAAGCCGGTGAAGCAGTTGCCACCGCCAGAGGAGCCCGAAGATGAGGAGCCTGAAATCACACAGTCCAGTCTGGCCAGGATGCCTCCACCTCCCAAAACGCTCAACACACCCACTCCCAAACCAGAGGTCAAGATCAGGAAACAAGAGTCTATTAAACCAAAGAGCTTAGCTGAAACCAAGAAGGCCAGCTTGGACCTGGTTGAAGAAGCAACGGTGGAAGAATCTGTAAGTTCTTAAGTTATTCTGACACTCATTAATGCACACAGGTCCATTTGAATGGAATGC
Associated Phenotype:
Not determined