ZMP
zgc:114196
Ensembl ID:
ZFIN ID:
Description:
Transcription factor AP-2-delta [Source:UniProtKB/Swiss-Prot;Acc:Q5RJ20]
Human Orthologue:
TFAP2D
Human Description:
transcription factor AP-2 delta (activating enhancer binding protein 2 delta) [Source:HGNC Symbol;Ac
Mouse Orthologue:
Tcfap2d
Mouse Description:
transcription factor AP-2, delta Gene [Source:MGI Symbol;Acc:MGI:2153466]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37160 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa37159 | Nonsense | Available for shipment | Available now |
| sa9817 | Essential Splice Site | Available for shipment | Available now |
| sa23809 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa37160
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 |
|---|---|---|---|---|---|
| ENSDART00000031167 | Nonsense | 59 | 450 | 2 | 8 |
Genomic Location (Zv9):
Chromosome 20 (position 48410850)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 48254591 |
| GRCz11 | 20 | 47731592 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCGTCTCCGCTTACATACCCAGCTACCGGAACCGAATTTGCCTCCCCGTA[T/A]TTTCCCACGAACCACCAGTACACGCCCTTACACCACCAGTCGTTCCACTA
Long Flanking Sequence:
TGTGCTTACCTGCGGTGAAACGGGCGTAGATTGTTGGGACTAAAAGGCTTTTAATAGCGATTGCACGGACGTAGTAATAATAATATAGTCAAATAACAGACTCCGTGGCAAATGATAGACAAGTGAGGGAGGAAAAAACGCTGTGAGCTCGTGGAGCAGTTTGCAGTGTGTTTCACGCACTCCCTCCCAGGCACGGAGAGATGACATCGCCGTCAGGTACTTTTCTAAAGACACTTTGAGCTGCTGTGTGTGTTTGTGTGTTTGGGGAAGGTTTGAGTTTCCGCCGCGTGAGAAATGCGCGCGGATCGCTGCGAGCGCGTGTAAATGACATCCCTCATATTTTTCTCTTTTTTCCCCGCACAGATACGTCACGACGGATCAAACAGCTACCGTTTGATGCAACTCGGATGCTTGGAATCTGTGGCCAACTCGTCTGTCGCTTACTCTTCATCGTCTCCGCTTACATACCCAGCTACCGGAACCGAATTTGCCTCCCCGTA[T/A]TTTCCCACGAACCACCAGTACACGCCCTTACACCACCAGTCGTTCCACTACGAGTTCCAGCACAGCCACCCGGCCGTGAACCCGGACGCGTACTCGTTAAACTCTCTGCATCACTCGCAGCAGTATTACCAGCAGCTCCATCACGGCGAACCGGCGGACTTCATCAACCTTCACAACGCCCGGGCGCTCAAGTCTTCGTGCCTGGACGAGCAGCGAAGGGAACTGGGCTGCCTGGACGCGTACCGCAGGCATGACCTGTCAATCATGAGCCACGGCTCTCAGTACGGCATGCACCCCGAGCAAAGACTGCTGCCCGGGGCGGGTCTGGGGCTGCCGCCACCGGGGGCCGATGACCTACAGGTACACCTCACCGACATTCTACCGTTCAAGCACAAAACACAAACACACACACGCTCAACGGTGTCGTCTGCAGAAAAGTCGACGCCTTCAGGGATGTTGCATAGTCACTTTCACTGCCCGAACAGAAGAAATGATTGCCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37159
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 |
|---|---|---|---|---|---|
| ENSDART00000031167 | Nonsense | 102 | 450 | 2 | 8 |
Genomic Location (Zv9):
Chromosome 20 (position 48410721)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 48254462 |
| GRCz11 | 20 | 47731463 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACCCGGACGCGTACTCGTTAAACTCTCTGCATCACTCGCAGCAGTATTA[C/A]CAGCAGCTCCATCACGGCGAACCGGCGGACTTCATCAACCTTCACAACGC
Long Flanking Sequence:
AGGAAAAAACGCTGTGAGCTCGTGGAGCAGTTTGCAGTGTGTTTCACGCACTCCCTCCCAGGCACGGAGAGATGACATCGCCGTCAGGTACTTTTCTAAAGACACTTTGAGCTGCTGTGTGTGTTTGTGTGTTTGGGGAAGGTTTGAGTTTCCGCCGCGTGAGAAATGCGCGCGGATCGCTGCGAGCGCGTGTAAATGACATCCCTCATATTTTTCTCTTTTTTCCCCGCACAGATACGTCACGACGGATCAAACAGCTACCGTTTGATGCAACTCGGATGCTTGGAATCTGTGGCCAACTCGTCTGTCGCTTACTCTTCATCGTCTCCGCTTACATACCCAGCTACCGGAACCGAATTTGCCTCCCCGTATTTTCCCACGAACCACCAGTACACGCCCTTACACCACCAGTCGTTCCACTACGAGTTCCAGCACAGCCACCCGGCCGTGAACCCGGACGCGTACTCGTTAAACTCTCTGCATCACTCGCAGCAGTATTA[C/A]CAGCAGCTCCATCACGGCGAACCGGCGGACTTCATCAACCTTCACAACGCCCGGGCGCTCAAGTCTTCGTGCCTGGACGAGCAGCGAAGGGAACTGGGCTGCCTGGACGCGTACCGCAGGCATGACCTGTCAATCATGAGCCACGGCTCTCAGTACGGCATGCACCCCGAGCAAAGACTGCTGCCCGGGGCGGGTCTGGGGCTGCCGCCACCGGGGGCCGATGACCTACAGGTACACCTCACCGACATTCTACCGTTCAAGCACAAAACACAAACACACACACGCTCAACGGTGTCGTCTGCAGAAAAGTCGACGCCTTCAGGGATGTTGCATAGTCACTTTCACTGCCCGAACAGAAGAAATGATTGCCCGAGGGCTCGAAAAAAAAAACATCCGGAAAAAGAAGGCCGTGCGATCACCTTTTGCGGCCTTGATGATTTCGCACAACGAATAAATTGATCGAATAACGCACAATAGTAAGCTACTCTTTACAAATAAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9817
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 |
|---|---|---|---|---|---|
| ENSDART00000031167 | Essential Splice Site | 294 | 450 | 5 | 8 |
Genomic Location (Zv9):
Chromosome 20 (position 48403772)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 48247513 |
| GRCz11 | 20 | 47724514 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGCCGCAGGAAAGCAGCCAACGTCACACTCTTGACCTCTTTAGTGGAAG[G/A]TATGGACTCATTTGTGCGGCTCTGGTTTATATCATGWCTGTTTTCAGATG
Long Flanking Sequence:
AACCATTGACTTCCATAGTAGGAAAAACAAACGCAATTCAATGTCAAGTTAATGGTTCCAGGCTCACAGCTTTCTTCACAATATCTTCTCTTGCATTTAAACCTATGAAAAAGCTAATAAATGTTTGAAACAAGGTAAAATGATGACACAATGTTCATTTTAAGGTGAAATATCCCTCTAAATCTGATCTTAAAAAATGTAAAGATGTCACACAGCTAGAGTTCACACAGAAATGTAGGTTTGTAGAGTGTTTAGGCTGAATAATGTAGAAGTGTTTTGGGGAAAAACTGGCATGTTGGGCAGAAAACGCTCTTCTGGGGATGTGAATGACAGACATGCGATGAGTGTTGCTGATGGACTTTTCTCCATCTGTGTGTTTAGGGCCAAGTCAAAGAACGGTGGCCGGTGCCTCAGGGAGAAACTGGACAGACTGGGACTCAATCTCCCAGCAGGCCGCAGGAAAGCAGCCAACGTCACACTCTTGACCTCTTTAGTGGAAG[G/A]TATGGACTCATTTGTGCGGCTCTGGTTTATATCATGACTGTTTTCAGATGCATGTTAGCTGACATTAAGACTGATTAACTTAATCTTCAGTTGGTTGCAGTGCAGTAAATAGTGGAAATACATTGCAGAAATGATCAGGCTTATTGTCCTGTACGCCAGAAAATATTAAAGGGTTAGTCTACGCTAAAATGAAAAACTACTCAACGTCGATTGGTTGCAAATTTTTAAGTTTCTTTACTCTTGTTGAACACTAAGGAAGATATTTTGAAGAATGCTGGGAACCTGTAACCATTGACTTTCATAGTAGGTAGGAGGAACAGTTACAATGGAGGTCAATGGTTACAGGGTTTCAGCATTCTTCAAAGTATCTTCTTTACTGTTCAACAGGAAATGAAACTCAAATGGGTGTGGAACAAGTAATTGGCGCATAAATTAATGCTCGGTTTTGGGTGAACTATCCCTTAAAGTCTTGAGAAAATATGAAGTCCTGTTTTCTGAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23809
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 |
|---|---|---|---|---|---|
| ENSDART00000031167 | Nonsense | 430 | 450 | 8 | 8 |
Genomic Location (Zv9):
Chromosome 20 (position 48397796)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 48241537 |
| GRCz11 | 20 | 47718538 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCAAATAAGAGCACAGGAACGCCGGACACCAATCAGATCAACTCCAACT[C/A]GGACAAAACACTGCGCAAAACCGAGGCACCGACAAAAGACGGTAAAATCG
Long Flanking Sequence:
TTATGGAATTTAATTTGGGGAGTTTGCTGTAAAAATGTCTAACAGCTGCTGTGAATTGCTTCTCTTTGCAATAGATGTATTGTTGGACACTGGGTGGATGTCGGCCCAAATTGTGCAGCTTTACTAAGACAAAGCAAAATGAAGACCTGTTTAAAATGATTTAAAGACAATGAAATTTAAGACATTTTAAAACCCCACAGACGCCCTGAATAATACAAGAACAAATACCAGTTTGCAACATGAACTGTTTTCAAAAAGCCAAAGTCAGTGGAATTTTAAATGACTAACAGTGAGGAGGATGTACTAAATGAAGGATTGTTATTGACAACTGCTTTCCACTGTCTTTTTCAGTCTGATCACGCATGGATTTGGTACGCCGGCGATTTGTGCAGCTCTTAGCACCTTTCAAACGATTCTCAGCGAAATGCTCAATTACTTGGAGAAACACTCAGCAAATAAGAGCACAGGAACGCCGGACACCAATCAGATCAACTCCAACT[C/A]GGACAAAACACTGCGCAAAACCGAGGCACCGACAAAAGACGGTAAAATCGAGAAGACGGAATGACTCTGAATGACACAGAAGTGGCCGCTGTCCTGACTGAGCCCTGATGGGCGGGACTTGTTCAGGGTGTGGCTACTAGGGGCGGGGTTACTGGGTTTTTATTCCATATGCATTCATTTCTACAACTGGCATACCTTCCAACAACCTCAGCTTTCCCTGTATGAGAGTCTGACTGTATGTACAAACCACTCACCATTCTCACTGCCCGCAAAAAAAAAAACGCAAACCATTTCATTATTTTCTAAGTTATTGAAGAAGTTATTTTGCTTAAAGTTTGTCTGTAATTAGTTTAAATAACGATTTTAAAAATGCAATATCTTTTATTAAATAAAAAAAGACTCACATTCCATTTCTGGCGAGGCCTCGTTTGAGGTCAGTTTGAGACTGTAAAAATATTACAGGTAACTTTCCCTGTTAACTACTGTATAATGTGCATGTT
Associated Phenotype:
Not determined