ZMP
si:dkey-189e1.4
Ensembl ID:
ZFIN ID:
Human Orthologue:
MLPH
Human Description:
melanophilin [Source:HGNC Symbol;Acc:29643]
Mouse Orthologue:
Mlph
Mouse Description:
melanophilin Gene [Source:MGI Symbol;Acc:MGI:2176380]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa7514 | Missense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa7514
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:
C > T
Consequence:
Missense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000144066 | Missense | 13 | 117 | 1 | 2 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 24 (position 10899687)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 24 | 10987090 |
| GRCz11 | 24 | 11127457 |
KASP Assay ID:
554-4289.1 (used for ordering genotyping assays)
KASP Sequence:
TCTGGTGGATGTGGAGCAGAAGTAYTCTGCTGCGTCTTTATGCAGCATCA[C/T]CACAGAGGTTCTGAAGGTCCTAAACGCCACAGAGGATTTGCTTGGTGARG
Long Flanking Sequence:
GAAGTCAACATGATTTCATATTGACATTGTACTCTAACGTCATGGGGATGTTGTATTTTGTTTGGAAATGAAAATCAGGTTGACGTCAGAACCCAAACTGAGGCCGACCTCAATGTTCAACCTCCAACCTAAAATCAATCTGAAATTAACCATATATTAATGTCTAATCATGTGACACCTTGTCGTTGTGTGGATGTTACCACTATTTCATCCATCAGATATTGGATTTTGGTTACTTTCTAACACAACTTAAAATCAACCAAATATCAACATAATTTGACGTCGTGATTTTATGTCAAAATAATCTTGTCCTTAGATGCTGGCTAGACATTTAATTTTGGTCACCTGATGTCATGACATAAATCTCACCTAATATTAACGTCTTATGATGTTGTGCGTCTGCTGTGTATAAGATTTATTTATCAGTGGTTTTCTCTGTTTCATGTATTCTCTGGTGGATGTGGAGCAGAAGTACTCTGCTGCGTCTTTATGCAGCATCA[C/T]CACAGAGGTTCTGAAGGTCCTAAACGCCACAGAGGATTTGCTTGGTGAAGCAGAATGCAAAGTTTATGATCCCTCTCCAGCTGGCACACACATATGCTCAGGTCCTGTCAACAAGAAGCTGGACCATCAACTTACTAAGATGGAGGAAAATGTAAGGTTTCCTGTTCCCAGCACATTACAATATCAACAGGAAATTCCAATATCAATCTGCAAGGGAAACTGATTAATTTAGCTTAATATGAAGCATTTAACAGATTTATAAGGAATTAAATTTCTTTTAAGATTTATACGGAATTAAAACACTGTACATCTAATCATTTGAACAACCATGAACTCTTCAACAAATTTAAAAGGGTTACTTCACCCCAAAAAACAAAATTTCTGTCAAATACTCACCCTCATTTCTTCATTTTCGAAGGACAAATTAAGATAAAATCTTAGCACTCTCTTACCTTCCATAAACAGAAACAGTCATGAGACCTTCTATGTCCAGATAATGA
Associated Phenotype:
Not determined