ZMP
zgc:100787
Ensembl ID:
ZFIN ID:
Description:
Peflin [Source:UniProtKB/Swiss-Prot;Acc:Q6DC93]
Human Orthologue:
PEF1
Human Description:
penta-EF-hand domain containing 1 [Source:HGNC Symbol;Acc:30009]
Mouse Orthologue:
Pef1
Mouse Description:
penta-EF hand domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1915148]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa36885 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa36885
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000032341 | Essential Splice Site | 95 | 270 | 2 | 5 |
Genomic Location (Zv9):
Chromosome 19 (position 38671490)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 37535473 |
| GRCz11 | 19 | 37122593 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTTATGGACAACCTCAAGGAGGACCATACCGTCAGCAGGGATCAGCAGG[T/C]TAGACATGTGTAACTCTACTGTGTTTTAGTTGGGCTAAGTATTATATAGG
Long Flanking Sequence:
ATATTAGCAGCCAATCATTATCAAAGTACACAATGTTCAGTCAATTAAATAGTGCTTATGTTGTTTTGAAGACGTTCTTGTTTGTAATTTAGGACCCAATATTCAAAGTAGCATGTCACAAATTGTCATTGGTCAAAAATGAACGAATGTGCGAATATAAAACCCACTTTACCCCAATGACAAGCATTTCATTTCAGCTAGTTAATATCGTATGCTTTTCTTTACTTGTTTCCAAAGGGTTATTCGGGACCAGGGGGTAATGCTCCCCAGTGGCAGCAGCCTCCAAGGGCACCATATGCAGGTGGTCCTGCTGCTGGACAGTATGGTTCACCTTATGGCAGTGCCCCTCCAGGGCAACAGTATGGAGGAGGGTCTCCATATGGATCTTATGGTCAACCTGGTCCAAGAGCACCATACGGAGGGGGTCAAGCTCCAGGGGGTCCATACGGAGGTTATGGACAACCTCAAGGAGGACCATACCGTCAGCAGGGATCAGCAGG[T/C]TAGACATGTGTAACTCTACTGTGTTTTAGTTGGGCTAAGTATTATATAGGTATCATATATATATACTACTAAATTATTCCTGTTTGCATATTTGTGTGGTTCCATTGGCCCTAAAAAATATTCTTAAGCTAAACTTGAATTGATGATATAAAATATAATTAAGCGTTTAAAATGCAAACAATGTGCATGGCTTGCATTATGATCATTGTATTTTTATTAATATGTCAACAGTAGTCAACATTTAAAATTAAAAAATAAAAAGTATCAAAGTTGCCCTAAAACTACTGGACAATATCCACTCTTGACTTAGGACAGTATTGAAATATTCATTTGGCCCACTTTTAATGTAGACTACTGTATTTAGCATTACCCGGTATAGACGATTGAAACAAAAGCATTGTAAGATCTGTAGGTAAAAACTCAATATTTTCAGCAGAACTTTTAAAGTGAATTGATATAAATAAAAACACATATTCATCTTGCTAACCTGCCTTTGAAAA
Associated Phenotype:
Not determined