ZMP
pkp1
Ensembl ID:
ZFIN ID:
Human Orthologue:
PKP1
Human Description:
plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) [Source:HGNC Symbol;Acc:9023]
Mouse Orthologue:
Pkp1
Mouse Description:
plakophilin 1 Gene [Source:MGI Symbol;Acc:MGI:1328359]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa40802 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa40802
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 > G
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000074605 | Nonsense | 643 | 736 | 11 | 13 |
Genomic Location (Zv9):
Chromosome 6 (position 54703172)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 54739906 |
| GRCz11 | 6 | 54748014 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGGGTTTCCTGAACTCTGGTCTTTCCAAGAAAGAATCTTCTCCTGAATA[T/G]GACAGTGCGATGGCCACCGCTCTGCGCAGCGCAAACACTCTGATTAATGC
Long Flanking Sequence:
ATGAGTAGTTCTTTGAATTATTTGTGACATCAAAATCTGAAGCATTTATCAAAACGATGGACCTTGCATCTGAAATCTTTATTTTGATGGTCCCTATTATACATTTTGTTGAGTAAAAGTTACATTGCAACTATGCCAATTACTGTACCTCTCATTTGAGTGTTGGTAGACTCTCTGCTTAATATCTGCTGATGCTGCTCCTTCAACAGCCATTTAACTGACTATCAGTAACTTTGCAAGTGCATGTCATCTTACACTAACCCTCACCACAATTTAAAAGTCTACTTATAATCTAATGAGAATTAGTTGGCATGTAGATGCAAATTAAATTCAACAAAATGCATAAAAGTGACCATCAAAATGTGATTTGTGATTTAGGTTGTTGTGCGTCTGACTGTATGTTGTGTGTGTGTTTTGCTCTATAAAGCACCTCAGTCTCTGCCGCAGCTGGTGGGTTTCCTGAACTCTGGTCTTTCCAAGAAAGAATCTTCTCCTGAATA[T/G]GACAGTGCGATGGCCACCGCTCTGCGCAGCGCAAACACTCTGATTAATGCGGATCCTGATACTGGCAAGAACCTGCTGAACAACAGCCTGATCAACAACCTCTACAACATGAGTCTCAATAGGTGAGTGCACCACTGACCTAAGATTATCTGCATTAAGGAAGTGAATGAATGGTTATTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCAATTCAATTCAATAATTGCTTTATTGGCTTGACAAATGTTACAAATGTATTGCCAAATCAGTTATAAAGTTTACATTAAAAGTAACATACATATATAATAAAAAAACAGTACACACAGTAAATAGTAGTAGTAAAAAAGATAATAATATAATATATAATAATTAAATAAAATATCAACAATACATCATATTATTCAATACACACACACACA
Associated Phenotype:
Not determined