ZMP
ENSDARG00000086554
Ensembl ID:
Human Orthologue:
PNPLA1
Human Description:
patatin-like phospholipase domain containing 1 [Source:HGNC Symbol;Acc:21246]
Mouse Orthologue:
Pnpla1
Mouse Description:
patatin-like phospholipase domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:3617850]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37609 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa37609
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000124604 | Essential Splice Site | 68 | 325 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 23 (position 5229104)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 5215904 |
| GRCz11 | 23 | 5131321 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACCAACTTCATCAGACTGGTGGATGCCATATTCGCTCGAGACTGGAGGG[T/G]GAGTTTGTGTGGAGCTTTTTTAGAGCTTTTACTGTCCACTTGGACGAATA
Long Flanking Sequence:
ATGTAACATGTATGATCTTCATTTGTCAGTTGAAGAAAAGTAATTTTACACTTTTGTTGTGTTCTTGTCAAATCTAATGTTAAAAATTTAAATTGTCTAGTAATTTGATCTATATTTCCCAGTTAAACTGACTTTTTTCTCCTCAACAAGGCGCTTCTGTGCAGCTGTTTTATTCCTGTTCTCGCTGGTGTGATTCCACCCCAATATAAAGGCGAGGTAAGTAAAAGTAAAAACAAACAAATAGCTTAAAATCAATACTACTTGAAATAAGCATCTCTGCTTTTACCAGCACTTTATGGATGGAGGCTTCACCAACATCCAGCCCTTGGAGGACTCCTTTCCCGCCCTCACTATCTCCCCATTTGCTGGAAACATGGACATCTGTCCTTCTGACTCCTCCACCAGCCTCTGTGATGCCATCATCCAGCAGCTGGCCTTCCAGTGCTCACTCACCAACTTCATCAGACTGGTGGATGCCATATTCGCTCGAGACTGGAGGG[T/G]GAGTTTGTGTGGAGCTTTTTTAGAGCTTTTACTGTCCACTTGGACGAATAAAAATAGCTTTTTTTACAGAAATGTATTTGAAGAAACATTATTAGACATCCAAAGAACATTACGATGACAAGTTGCAATTTAACTGCACTTTGCACATAAACAGCGGGGGAAATACATATTCAGCACATCACCATTTTTCTCAGAAAACATATTTCTTAAGGTGCTGTTGACTTGAAATGTTCACCAGATGTTGATAACAACCAAAGAAATACATATGTAAAAAGAAAAAAAGTGTTGTGTATTAAAATGAAATAACAAAAAAAAAAAGTATTGAACACATGAAGAAAGGGAAGTATAAAAAGGCAGTGAAAGCCAAGACAACAGCTGAAATCTCTCCGTAGTTATTCAGCAACCCTCTGTCAATGTAAATAATATTAGCTGCTTCAGTCCAACATTTGCATTACCAGAATGATGAAGATGAAACCAGACTAGACATTTAAGCAAGACAA
Associated Phenotype:
Not determined