ZMP
mlpha
Ensembl ID:
ZFIN ID:
Description:
melanophilin b [Source:RefSeq peptide;Acc:NP_001073147]
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 are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa20675 | Nonsense | Available for shipment | Available now |
| sa16116 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20675
Status:
Available for shipment
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:
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000104671 | Nonsense | 209 | 503 | 6 | 12 |
| ENSDART00000128940 | Nonsense | 209 | 518 | 6 | 13 |
| ENSDART00000135583 | Nonsense | 209 | 503 | 7 | 13 |
Genomic Location (Zv9):
Chromosome 6 (position 15524851)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 15498083 |
| GRCz11 | 6 | 15625023 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGTCCACCCCATGGATTTGGAAATAGACGACTATGCCGTTCACTCTCGC[A/T]GACAGTCTGTCCAGGTATGAGAAGGTTCATTTTTATTGTCAGTAGTCACA
Long Flanking Sequence:
AGTTAAAGTCTATTATTTCCATATTTTTCTTGTTTTTTATTCTTCCCAAAAGCACCTCCTAATGATAACTTTAAGCAGTTCAATGATAAGTGGAGCAAAAACAAACAAACATATATATATATATATATATATATTCAAGCACTATTTTTAATGTTAAATTATAATCTTTTAAACTATGGCTCTTACCCATTTTCATTCGTCATTTAATGTAAATAAACGTAAAATAAATTGAATGGTAATTTAGACTTTATCCTATGAGTACTCCTCAATATAGCATCATTTAAAATTAACTCTTTATAAATACTTATTCCTACAATGTCCTTTAATTTCTCAATATTTTTGGGTGTGCAATTAAAACAAACCTCTCTTAGAATTATATTCCAAAGTCTATAGTGTATATGAAGTAAATCTGTTGTTTTTCTCAGATGCGAAAGACTAAGCGTCTTCTCTCTGTCCACCCCATGGATTTGGAAATAGACGACTATGCCGTTCACTCTCGC[A/T]GACAGTCTGTCCAGGTATGAGAAGGTTCATTTTTATTGTCAGTAGTCACAATTTAAACGAAGAGTCAGGAATTCTAAAAAAATCTGTTTTCTCCAGTACATCCATGATGATAGAGGTCAGCGGAATGATCTAGAATACAACTCTGAAATCTACCATCAGCATCAGCAACGCATGAACCGCAGGAAAAGTCTCGACAGGTTCTCACGCCCAGGTAAAGAAGCAAATACATTTTCTCTATACACATTTTTTTCTTTCTTTCTCAGAAAAAAATTGTTATTAAATTAATTTTATATTTACAAAGAATACATTTATTATGAGAGCGAAGTAAAAAAAAAAAAAAAAAAGAATGGAAAGCACATGTACACTTAGCAATTTGTGGAATATGTCATTTGTAAACGAATAACATGTATTTGTAATGTGAAGGGGACGCTGATAAAGGAGTGCAGATCCAAACGCAAGTTTATTAACAGGATGGTCAGGCAAGCAATGGTCAGCACAGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16116
Status:
Available for shipment
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:
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000104671 | Nonsense | 227 | 503 | 7 | 12 |
| ENSDART00000128940 | Nonsense | 227 | 518 | 7 | 13 |
| ENSDART00000135583 | Nonsense | 227 | 503 | 8 | 13 |
Genomic Location (Zv9):
Chromosome 6 (position 15524713)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 15497945 |
| GRCz11 | 6 | 15624885 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTCTCCAGYACATCCATGATGATAGAGGTCAGCGGAATGATCTAGAATA[C/A]AACTCTGAAATCTACCATCAGCATCAGCAACGCATGAACCGCAGGAAAAG
Long Flanking Sequence:
GCACTATTTTTAATGTTAAATTATAATCTTTTAAACTATGGCTCTTACCCATTTTCATTCGTCATTTAATGTAAATAAACGTAAAATAAATTGAATGGTAATTTAGACTTTATCCTATGAGTACTCCTCAATATAGCATCATTTAAAATTAACTCTTTATAAATACTTATTCCTACAATGTCCTTTAATTTCTCAATATTTTTGGGTGTGCAATTAAAACAAACCTCTCTTAGAATTATATTCCAAAGTCTATAGTGTATATGAAGTAAATCTGTTGTTTTTCTCAGATGCGAAAGACTAAGCGTCTTCTCTCTGTCCACCCCATGGATTTGGAAATAGACGACTATGCCGTTCACTCTCGCAGACAGTCTGTCCAGGTATGAGAAGGTTCATTTTTATTGTCAGTAGTCACAATTTAAACGAAGAGTCAGGAATTCTAAAAAAATCTGTTTTCTCCAGTACATCCATGATGATAGAGGTCAGCGGAATGATCTAGAATA[C/A]AACTCTGAAATCTACCATCAGCATCAGCAACGCATGAACCGCAGGAAAAGTCTCGACAGGTTCTCACGCCCAGGTAAAGAAGCAAATACATTTTCTCTATACACATTTTTTTCTTTCTTTCTCAGAAAAAAATTGTTATTAAATTAATTTTATATTTACAAAGAATACATTTATTATGAGAGCGAAGTAAAAAAAAAAAAAAAAAAGAATGGAAAGCACATGTACACTTAGCAATTTGTGGAATATGTCATTTGTAAACGAATAACATGTATTTGTAATGTGAAGGGGACGCTGATAAAGGAGTGCAGATCCAAACGCAAGTTTATTAACAGGATGGTCAGGCAAGCAATGGTCAGCACAGGGGAAAACAGATGAATAGAGTAGTATCATAGTACCATAGTAGTGGTCAAAACACAGGTGAATAGTCAGTACAGGCAGAGAGCAGGCAACTTAAACAAACAGAACAACAAAGCAAAGGTCTAAGACTGAAAAGCAAGGCA
Associated Phenotype:
Not determined