ZMP
si:dkey-11p10.8
Ensembl ID:
ZFIN ID:
Human Orthologue:
PHLDB2
Human Description:
pleckstrin homology-like domain, family B, member 2 [Source:HGNC Symbol;Acc:29573]
Mouse Orthologue:
Phldb2
Mouse Description:
pleckstrin homology-like domain, family B, member 2 Gene [Source:MGI Symbol;Acc:MGI:2444981]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa37899 | Nonsense | Available for shipment | Available now |
sa24511 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa37899
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111552 | Nonsense | 746 | 1361 | 9 | 22 |
ENSDART00000141601 | Nonsense | 591 | 1163 | 6 | 18 |
Genomic Location (Zv9):
Chromosome 24 (position 25728398)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 24975276 |
GRCz11 | 24 | 25120450 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCAGGATTCGGAGATGGCTCAGCTGCAGCAGGAAAAAGACACTCTGGAG[C/T]AGCTTAAAGAAAAGATGGCCGAAATCGAAAACAAAGCACAGACAGACAAA
Long Flanking Sequence:
AGTTCAGATGACCCAAAGCTCAAGTGAAAGCTATAGCTAAAGTGGGCCTCAAAGTAGAAACTCCCGTCTCTTGATTAATGATTCGCAGGTAAGTTAGTCTTCTGCCAGTAGTTCCTGCGAGGTCAGCTGTTCCATTACTAGCACATTCAACAAACCCGCACTGTCAGTGATGAGTTCAAGTTTTATAAGGTTGAGGTTTCATTGGCTCAGAATGTGGGCCTCCTTTTTATATGTGTGAAATGAGGCACCATCTTGGTGGTCCAGAATGTAGTGGTATTACATCACTGTTTGCTGTGAAATCATTGATGTTGTTGCAGCATTAAAAATCAGTGACTTCAATGACTGATTTTTTTAATGATGATTGATGTTTTTTATATGTTTGAAATGTTAAAATTAAATATATATTTGTGTGTGTTTAGTTGGAAGTGGAGCGGGCTCTGCTGGAAGGCGAGCAGGATTCGGAGATGGCTCAGCTGCAGCAGGAAAAAGACACTCTGGAG[C/T]AGCTTAAAGAAAAGATGGCCGAAATCGAAAACAAAGCACAGACAGACAAATCTCAGGTATGTTGCCATGTATCTTCAGGGTTAGTTAGCAGTTATCTAAATGAAGCAATGCTACACTGTAAAAATATATGTGATATGATGAAAGATGATAAGTTAATCAAGTGTCAACTATGTTATGCAAAGCTTAACTTAATATGTTTAGTCAGTTTGATTGATATAAGTTGAGAGGACTTGAAATGTTAGTTTAATTCAACTGAAAAAATAAAGCTGCAAGAATATCCTGAACTCAAATGCACTCTGCTAAACATTTGGTGGTGATTAGGTACATTAGGTAGATTATTCAAACAAATAAATCGCTTTGTTGGTTTGTGGTCTGTAAGATTTATTTTGAAAGGTATTAATAATTTATTTAGAAAGGATGCTTTCAATTGATTGAAGTCAACGCAAGGATGGTTGCAAAACATTCATTACTCCAAATGAATGCTTTAAGCAAACTTTCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24511
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111552 | Essential Splice Site | 1032 | 1361 | 15 | 22 |
ENSDART00000141601 | Essential Splice Site | 834 | 1163 | 11 | 18 |
Genomic Location (Zv9):
Chromosome 24 (position 25715473)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 24962351 |
GRCz11 | 24 | 25107525 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTACCCCACAATTCACCTGTGCCACCCTGGGTCGCAACATATCCCCTAAA[G/A]TAAGAACACACTATTCATTCATTTATTTTCTTTTCGGCTTAGTCCCTTTA
Long Flanking Sequence:
TTTTTCATGATATGACTCTTTTTAAACTACCTAGTCTTATCAGCTCACCTTCTTCTGGCATTATTTTCAGATTTTCTCTTTTCCTCTCTTTGCCAAAGCTCTCTCCCTCTTCCAGTCCACTGTCCTCCTCCATCCTTTCCTCTTCCTCTTTCACTGCATGCTCTCATCCAAACCCTAAACCTCCCTCCGTGCACTGGCCAGAAGACATGGTCACCTTCCTCAATCCTTCTCCTCCTCCTCCTCCTTTGCCTGCAAAAAAAATGCGCCGCCACAGGCAGGTAATCCTTCTGAGTGTGTCTGTACATATGAATGTAATTATCACTGAAATGACTTATCTTTAACCTTCTGTTCCTCAGCATTTTCGCAGTCTAGAGGAAAGAAAACGGTACGGTAAAGAAGGCGGAGCTCATTTGAGTGACACTCTTCCACGCAAGAAAACCCAGCCCACTATTACCCCACAATTCACCTGTGCCACCCTGGGTCGCAACATATCCCCTAAA[G/A]TAAGAACACACTATTCATTCATTTATTTTCTTTTCGGCTTAGTCCCTTTATTAATCTGGGGTCGCCGCAGCAGAATGAACCGCCAAGAATAAACAAAAGCGGATGCCCTTCCAGCTGCAACCCATCACTGGGAAACAACTATACACCCTTATTCACACATACACTATGGACAATTTAGTTTACCCAATTCACCTATAGCGCATGTATTTGGACTTTTGGGGGAAACCGGAGCACCCGGAGAACACTCACGCCAACACGGGGAGAACATGCAAACTCCAAACAGAGCTGCCAACTGACCCAGCCGGGACTCGAACCAGTGACCTTCTTGCTGTGAGGCAACAGCCCTAAACACTGAGCCACCATGCCACCAATACATGATACACTAATGATGACAATTTTGAACTGAATGGTTAAAAAAAATTGCATAAAAATTTAAAAGACAACATTTGAAAAAAAAAAAACATGAAAAAAATTTTACCGACCTCAAATTTTGAATGTTT
Associated Phenotype:
Not determined