ZMP
ENSDARG00000079289
Ensembl ID:
Human Orthologue:
PPP4R1L
Human Description:
protein phosphatase 4, regulatory subunit 1-like [Source:HGNC Symbol;Acc:15755]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa16511 | Essential Splice Site | Available for shipment | Available now |
sa33963 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa15442 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa16511
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109237 | Essential Splice Site | 97 | 923 | 4 | 26 |
Genomic Location (Zv9):
Chromosome 6 (position 49495456)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 49545137 |
GRCz11 | 6 | 49543790 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACTTCATCAGTGTCAYGGAAACGGTTGCCAGGATGTCTGAGGATGGAGG[T/G]TTGTATGGCTTTAGMCTTTATTTGACTTGATTCCGTATGGTGGAACTCTG
Long Flanking Sequence:
TCTGCAGTGTGAAACCAGTAACTGTGAGACGTGTTATGTGAGACCTCTGTGTTTTCCTCTGTCATGCAATACTTGGTGTTTTTTTAGGAGTAGTGTAAGATGTCCATAATGTAACTATCACTTGAATTCCAGTGTGAATCGATACAGAAGAACTTTTATGGCACAATGGTGGAACATGAGTTTCAAAATGTAAAGGCTTAAAGTACACCTGATATTAAGTTAGACCAGAAATAGCTGTAAGGAGCCAAAATTGTCATTGCAGAAGAATTTGGCTCATACTTAAAGCTTCTTATGTTATTACTGATATTATAGCTTGAAATTTGTTGGAAATATTGCGTTTAGACAATTTTGTGGTAAATTCTAATGTTATTGTATGCTTTATGTATTTTCAGGCAAATTGTGGCTCGTGGATTGCTGGATGTTCTCCGGGAGTTCAGTGCTAATGAAAATGACTTCATCAGTGTCATGGAAACGGTTGCCAGGATGTCTGAGGATGGAGG[T/G]TTGTATGGCTTTAGACTTTATTTGACTTGATTCCGTATGGTGGAACTCTGTGTAATGTCATAAATGTAATGCGATGTTACAGAACCGACAGTGCGAGCAGAGCTAATGGAACAGGTGCCAAACATTGCCATGTTCCTCCATGAAAATCGCCCCAATTTCCCAGAAGCTTTCTCACGGTACCTGGTTCCCATAGTGGTCCGCTATCTTACAGATCCTAATAATCAAGTGAGTTTTATTTAGCAAAAATATTTGTCCTGTGAGATGTTCTTCCTAATGGATGAAATAATTACAGATTTTTTTTTTGTTTATTTATTTGTCAGTATTGTTGTTGTCTGTATTTTTTTTTTTTGTATAATGTTTATTAAGAAACCTATGTTTGTAAAATGTCTATTGAATAAATGATATAGTGTATAATATAATACACACTACCTGACAAAAGGCTTGTCGCCTATCCAAGTTTTAGGTTGGTCATTGTGTATCAGAAGTGGCTAATATGAAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33963
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109237 | Nonsense | 506 | 923 | 16 | 26 |
Genomic Location (Zv9):
Chromosome 6 (position 49486608)
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTTATTTATTTCCCAATGTGTTTTCCACTTGCAGCACAAGTGAAGGTGT[T/A]GTCGGCTGCTTTGAAGGCTGCTCAGCTGGAGAGTCAGACGGAAGACGCTG
Long Flanking Sequence:
GACAACATGATGTTCAACTCCTTCAACTTTTGGAGACCTCCACTACCTGACATCACCCAAGACCTGCAGCTGCTACAAGGGCAGGAACGAGATGTGACGCTCGAGGAAAAAGAACAAATCACGAGGGAAACAGAAGCTGACAGGAAAGACATCGTGCCAAGTTTAGACGCACAAGGCCCAGCCACCAGCTCGCAGATCCAAAAGGTTTTAGACTGTCTTCAACCTCATCTAGATGATCCAGACGTGCAAGGTGAATTTCAAAAAGAGCTCATGTTATTTTGCTTGTTTCTAGTGGAGGACAACATTCGCAAATACTCAATGTACAGGTTTAAGTGAATTTTCCTGATTCTTTACGTGTCCTAGTCCTTCCCCTGAAATGTGGGATGTTGACGCACATTGATCGTTACAAATATGATGATAGTGCACACCCCTGCTTTTCTCCAAGTCAGTAGTTATTTATTTCCCAATGTGTTTTCCACTTGCAGCACAAGTGAAGGTGT[T/A]GTCGGCTGCTTTGAAGGCTGCTCAGCTGGAGAGTCAGACGGAAGACGCTGATGATTCTATGTCAGAGAGTAACGGCTCCACGGGCTCCCCGACATCGGAGGAGCTCAGTGCCATGAGTGAACTCTCGCTGACAGACGCTCAGATCTCAGACTCGCCCTCCACGTCACCTGTGCTGGTGGATGACTCTGAACACAGCAGCGAGGTGAGAGAACAGCTTTCTTTCTTATTGTTGAAATGTGCAAATATTATAGCTTTGGAAATTAATAGCATATACTAAGGATTTCCTGGTTGATTCAGTTTCTATATACATTTTTTTCATTTTCATGGTTGCGGTGGTTTTTCTGTTATGTTAATTTGTTAAATGTGTTTTCTTTAAGTGAATATAATGAGAATGTCATTGACTACGTTTACATAGACATCAGTATTGTTTGCCTTAATCTGAATAACACAATAATCTGATTAAGTTGTTTATATGAGCTGCTTTTAGAATGTTCCTTTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15442
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000109237 | Essential Splice Site | 829 | 923 | 24 | 26 |
Genomic Location (Zv9):
Chromosome 6 (position 49479404)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 49535364 |
GRCz11 | 6 | 49534017 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCACAGTCCCAAATGGGTCGGGCGTCAGGCATTTGCTTTCATTTGCCAGG[T/C]ATGATGTTWGACTTCWAGAATCATTCAAAGGATTTACAGGGNTTTCTTTTT
Long Flanking Sequence:
GAGATTTCGCTATGAACTAGCCGAGTATGCACTACTTTACAAAAAGCTTCATTTACACGGTGTCCTTTGAAACCTCCAGGCGTGATCTCACTCTCATGGTATTGTCTTTGTATGTGTGTTCAGACAGCTTATCCTGATCATCGAGTTGTACAGCCACAATGACGTCTATGACTACCTCAGACAGATCGCACTTAACCTTTGCTCTGACAAAGTGTCAGAAGTGCGGTGGATCTCCTACAAACTGGTGAGACTTGTTTCCTGTGGCACATTTGGAAAAAACAACTCTCTGCTGGCTTTATTGGCTCCATTGTTTTTCAGTGGGGCTGATTCAATGATTTTTTGTTGTCTTGTGAATGTTTGTCAGGTGGTGGAGATCCTGCAGAAGTTGTATTCCTGTGAAGCTCATGACTTGGGACTTAATTTCATTAATGAGCTCATTATGAGGTTCTGCCACAGTCCCAAATGGGTCGGGCGTCAGGCATTTGCTTTCATTTGCCAGG[T/C]ATGATGTTTGACTTCAAGAATCATTCAAAGGATTTACAGGGTTTCTTTTTAATCTTATTCATTTGTTCTTCACATTTGTTCGTCTCTTATTTTGTGCTGCTCTTTAACTTTTTAAATGAATGTTTTACATAGAATAGTCATGATGTTTCTTGACACACCGAGATGGATAAATCTGAAATGATGAGAGCACCATAATAGACTATAGTGCAGTTAAGTGTTAGTCAGCTGGTGACTTCTTTATATTGTCACTACACTAAACTTTCTTAATGCTTTCAAAATGAAAAACACAATATGTACGGAAACAAAGTAAGTTATTTTATTTCATCTTGCCTGAAATGTGGCAGAAAATTACTAATATTTTATGTAGTGCGATCATTTTTACCTGGTGTCCGTGGGGGTCTTATAAGTTGATAAATCAATTTAGAGAAGTTTTTTAACCCTTAAAAATATTCTAAAGTCTTAAAGTCTCAAAGTCTGCTGTTATACACGGTATTAAATTT
Associated Phenotype:
Not determined