ZMP
pde6h
Ensembl ID:
ZFIN ID:
Description:
phosphodiesterase 6H, cGMP-specific, cone, gamma [Source:RefSeq peptide;Acc:NP_957079]
Human Orthologue:
PDE6H
Human Description:
phosphodiesterase 6H, cGMP-specific, cone, gamma [Source:HGNC Symbol;Acc:8790]
Mouse Orthologue:
Pde6h
Mouse Description:
phosphodiesterase 6H, cGMP-specific, cone, gamma Gene [Source:MGI Symbol;Acc:MGI:1925850]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa20604 | Essential Splice Site | Available for shipment | Available now |
sa12265 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20604
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 |
---|---|---|---|---|---|
ENSDART00000103373 | Essential Splice Site | 48 | 73 | 2 | 3 |
Genomic Location (Zv9):
Chromosome 6 (position 269898)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 332002 |
GRCz11 | 6 | 345131 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGAAGGGCTTCGGAGACGACATCCCAGGAATGGAGGGTCTCGGCACAG[G/A]TAATGCGGAGTTTACACACCCTAAACTAAATCAACACAAGTGCTGTTATT
Long Flanking Sequence:
CACACACACACACACACACACAAACACAAACACAAACACACACACACACACACACACACACAAACACACACACACACTTTTCTTTTGGATGTGATTAATCTTAATTAACCCAGCTAAATATTAAACAAAGAAAAACAGTAGTAGATAAATANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGATCAGATCAGGAGATCAATTAAAACAACAGTTCAGCACAGTAATGATATTAATAATAATAATACTAAACTCTGTGTGTGTGTGTGTTTCAGCACCTGTCAGAAATGGACGTTGCAGAACCCGTTGAGAAGAGAGGAGGACCACCAAAGTTCAAGCAGAGGACCACTCGCACCTTCAAGAGCAAGGCTCCCAAACCCGGACAGAAGGGCTTCGGAGACGACATCCCAGGAATGGAGGGTCTCGGCACAG[G/A]TAATGCGGAGTTTACACACCCTAAACTAAATCAACACAAGTGCTGTTATTTATTTGTACAGTTTATTTGTGTTTGGTTTACTCCACTGAGATTTATAAAACATTATTAGCGTAATCATTCAGTGTTAGGTTGGAAATGAATTGTGTTGGTGAAACTACCTGGCTGGTGGATATGCAGTTCCCAGCATGCCTTGTGTTGGATTTAACTAACTTAAGTTACACCATGATATACATATATATAAACAGTATATAGTGAATGCATTGGAGTGTTTTGAATGACATGAGGCTGACGGTTTTCCTCCTCTGGTCTGTCGACAGACATCACTGTGATCTGCCCGTGGGAAGCGTTTGGAGACATGGAGCTCAGCGATCTGGCCAAATATGGCATTCTGTAAATGATGTTAAATCTACAGTAAAATCAGCAGCTCAGAGGATCATTTATTCATCACACACACACCGACGGCGGCAGCAGGCGCTCTCAGGCCAACACACACAGAGAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12265
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000103373 | Essential Splice Site | 49 | 73 | 3 | 3 |
Genomic Location (Zv9):
Chromosome 6 (position 269582)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 326595 |
GRCz11 | 6 | 356564 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGTTTTGAATGACATGAGGCTGACGGTTTTCCTCCTCTGGTCTGTCGAC[A/T]GAYATCACTGTGATCTGCCCGTGGGAAGCGTTTGGAGACATGGAGCTCAG
Long Flanking Sequence:
TAAACTCTGTGTGTGTGTGTGTTTCAGCACCTGTCAGAAATGGACGTTGCAGAACCCGTTGAGAAGAGAGGAGGACCACCAAAGTTCAAGCAGAGGACCACTCGCACCTTCAAGAGCAAGGCTCCCAAACCCGGACAGAAGGGCTTCGGAGACGACATCCCAGGAATGGAGGGTCTCGGCACAGGTAATGCGGAGTTTACACACCCTAAACTAAATCAACACAAGTGCTGTTATTTATTTGTACAGTTTATTTGTGTTTGGTTTACTCCACTGAGATTTATAAAACATTATTAGCGTAATCATTCAGTGTTAGGTTGGAAATGAATTGTGTTGGTGAAACTACCTGGCTGGTGGATATGCAGTTCCCAGCATGCCTTGTGTTGGATTTAACTAACTTAAGTTACACCATGATATACATATATATAAACAGTATATAGTGAATGCATTGGAGTGTTTTGAATGACATGAGGCTGACGGTTTTCCTCCTCTGGTCTGTCGAC[A/T]GACATCACTGTGATCTGCCCGTGGGAAGCGTTTGGAGACATGGAGCTCAGCGATCTGGCCAAATATGGCATTCTGTAAATGATGTTAAATCTACAGTAAAATCAGCAGCTCAGAGGATCATTTATTCATCACACACACACCGACGGCGGCAGCAGGCGCTCTCAGGCCAACACACACAGAGAAACGGATGGACTGAATGGATATACGGAGCAGTGTTCCTCAGGGAGGAGCTGCTGTTCTTCAGCTGGAGCTCCAGATTGGGTTTAATCCCTCTCCTATTGCCTGCAGCACAGCAGAGAAATAATGTGATCAAATCTGCTTTATTTTCTTGAACTGTGCATGAGATTGTGTTTGTGCCTGATTGATTTGACATAGAGCACACAAAAATAAAGATTTATTTTCCCATAAGTGTGTGTGATGAGTATTGTGTGTCCAATCTGACAGACTGTCTTTAAACTGGTTCAGCATTAAACTCCTTCATCTACAAACTTGCATTAATT
Associated Phenotype:
Not determined