ZMP
PDZD7 (2 of 2)
Ensembl ID:
Description:
PDZ domain containing 7 [Source:HGNC Symbol;Acc:26257]
Human Orthologue:
PDZD7
Human Description:
PDZ domain containing 7 [Source:HGNC Symbol;Acc:26257]
Mouse Orthologue:
Pdzd7
Mouse Description:
PDZ domain containing 7 Gene [Source:MGI Symbol;Acc:MGI:3608325]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa42097 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa24924 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa42097
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:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000123407 | Nonsense | 34 | 864 | 2 | 21 |
Genomic Location (Zv9):
Chromosome 12 (position 49023589)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 12 | 47900091 |
| GRCz11 | 12 | 47770601 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGACGGTCCTCAGAGGTGATGATGGTCAGCTGGGCTTCAGTGTGCGAGGA[G/T]GATCTGAACACGGACTCAGTGTCTTCATCAGCAAAGTACAGAAAAACAGT
Long Flanking Sequence:
AATTATAGTTATTTTAACAATTTAATAATCAGGCACTGGAATCAGAATGTGAAAATGGAAATCCTAAACAAAAATAATAAATGTTAACAAAAAAGTGCAAGGTAAAGAGTATCAGAGGCTGTGATATCTGCTACCAGATTTATTTTCAGCTGTCAGACACACACATGAAGATATACTATAGTAGTTATAGTAAATACCACAGTGTTACCATACTGACATTGACTGTTCCAATAGAGATAGAGATGTTGCACAATCAGCCGAAATGTTGCAAAAAATTGGTGTTTATGTATGGGCAATATACAGTATACTGCATCACCAAAAATGATTGAGCTCATGTCCATGTGCTGTGCTATGATCCATATATTGATTATTGTGAGAGGCCTCTATATTATCTGAAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCAGGTGAGATTGTGAGGCTGACGGTCCTCAGAGGTGATGATGGTCAGCTGGGCTTCAGTGTGCGAGGA[G/T]GATCTGAACACGGACTCAGTGTCTTCATCAGCAAAGTACAGAAAAACAGTGCTGCAGGTCAAAGATGTGTTTTAAAATGAAAAGATTTGTTATATATATATATATATATATATATATATATATATTACTCGGGTCAAAACACACTGACAGATGCTTTTAAAGGAACAGTAAACCCAAAAATAAAAAAAAAATGCTGTGATGTCAGGCAGTACATACATTGTAAAAACATTCTGTTCCACACAATTGATTTGGGTTGGGTCAGCAAGAAGGAATTAAGTTATTAACTTACGGGTTTATACAAATTTAGCTGGATTGAACATAAATCAATTGAGTCACCCCTAATCAACTCAAGAATTGTGAGGTTTCAGCTCATTTTAAATACATACAGTGCCTATTGAAAATCCTCATACTCTTTTAAAATAATTACTTTATTTGTCATACAGCCTGAAATCAAATCAAATTCTAAATAACTTTTNNNNNNNNNNNNNNNNNNNNNNNNN
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24924
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000123407 | Nonsense | 723 | 864 | 19 | 21 |
Genomic Location (Zv9):
Chromosome 12 (position 49000331)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 12 | 47876833 |
| GRCz11 | 12 | 47747300 |
KASP Assay ID:
554-7875.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTCAGAGAGTCCTGAAGACGACGTGCTGTTCACTGTAGTGGACGCTCCT[C/T]GACACAAGAGGCCGCTGCTGGCTCAGGTCTTCGGCTCTATGAAAAAATCC
Long Flanking Sequence:
TTCCGCATAGGACTCGGTTGCTCTAACAAAGAGGCTAAAGACCATGACCTCTAGCGGCTGTCGCTAGAGCACCTTTAGAGGTCAGAGGAGTGAGGTGTACCTGCACAGCACACACTAGCTGGCCTCCGTTACACATTCAAACAAATTATATTCCAGTCCTCCAGATCCATGCTAGTCTTTGAGTTTTCTTTATGATTTTCTCTTAATATGTTATATAATTGTGTAATTCGGCCTTTTATGGAACAATCTTGTTCTGTAAGAGTTTCCAATAACTGTGGAACTGGGGGGGGGGCAGTGTTGAATTTTTCAAATGTGTAAAAATAAAACTTCTCAATTGTAAATATTTAGGGGTAGACATTAATACAATACAATTTAATGGGTAAATAAATAAATAATATGAACAATTCTCATTATTTTCCCTCTACAGCTGTATCCCTTCTAGCGCTGTCCGGTCAGAGAGTCCTGAAGACGACGTGCTGTTCACTGTAGTGGACGCTCCT[C/T]GACACAAGAGGCCGCTGCTGGCTCAGGTCTTCGGCTCTATGAAAAAATCCCACAGTTCCACAGTGTCGCCCGCTGAGCAGATGTGTGGGAAAAAAACAGCTCCAGACGTCCACATCCAGCCCGCGTTCGAGCTCACGACTGTCCATATCAGCAAAACCAAGCAGTCTCTGGGTATTCACGCTTCTTTTTTTAATTAGGGCTGCATTATGCTGGACAAATATGTGATATTTTATTAAGATACACTGTATAACATATCCCTTGAGGAATTCAATATTATTAGCTATTTTTTATGTAATGATCACAGTAAAATAAACAGGTAATAAACTTTAAACTCATATGCATACAACAGAACAAGCAACAAAACATATCTTTAATTATTTACTTTGGTTTTTTACTTCTATGCATGTAAGACTTAATATATATTACTAGTGTGTGTTTATATATATATATAAATATATATAATCAGTGTCTGATTATATATATATATTTTTCTGGAGAAA
Associated Phenotype:
Not determined