jph2

Ensembl ID:
ENSDARG00000028625
ZFIN ID:
ZDB-GENE-030131-9848
Description:
junctophilin-2 [Source:RefSeq peptide;Acc:NP_001082833]
Human Orthologue:
JPH2
Human Description:
junctophilin 2 [Source:HGNC Symbol;Acc:14202]
Mouse Orthologue:
Jph2
Mouse Description:
junctophilin 2 Gene [Source:MGI Symbol;Acc:MGI:1891496]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa798 Nonsense Available for shipment Available now
sa29982 Nonsense Mutation detected in F1 DNA During 2016
sa32459 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa798
Current 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
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000043429 Nonsense 35 781 1 6
Genomic Location (Zv9):
Chromosome 23 (position 35807213)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 35656866
KASP Assay ID:
554-0703.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGGAGGGAGGAAAAGCGCACGGACACGGGATCTGCACCGGACCCAAAGGA[C/T]AAGGAGAGTTCTCCGGCTCTTGGAATTACGGGTTCGAGGTGGTCGGAGTC
Associated Phenotype:

Normal

Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037
whole organism
ZFA:0001094
quality
PATO:0000001
normal
PATO:0000461

Mutation Details

Allele Name:
sa29982
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000043429 Nonsense 82 781 1 6
Genomic Location (Zv9):
Chromosome 23 (position 35807070)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 35656723
KASP Assay ID:
2261-8075.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAGGGGAAGCGTCACGGTTTAGGTGTGGAGACCAAGGGTCACTGGATCTA[C/A]AAGGGAGAGTGGACGCACGGCTTCAAAGGCAGATACGGGACGCGCATCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32459
Current 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:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000043429 Essential Splice Site 127 781 2 6
Genomic Location (Zv9):
Chromosome 23 (position 35798376)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 35648029
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGCAAGCCAGCACTATAACATCTTCCACTTAATGTCTTTTTGCAATTACA[G/A]GTACCTTCCAGGGCCAGTTCACAGGTGGCATGCGGCACGGCTATGGAGTA
Associated Phenotype:
Not determined

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