ZMP
AP2A1
Ensembl ID:
Description:
adaptor-related protein complex 2, alpha 1 subunit [Source:HGNC Symbol;Acc:561]
Human Orthologue:
AP2A1
Human Description:
adaptor-related protein complex 2, alpha 1 subunit [Source:HGNC Symbol;Acc:561]
Mouse Orthologue:
Ap2a1
Mouse Description:
adaptor protein complex AP-2, alpha 1 subunit Gene [Source:MGI Symbol;Acc:MGI:101921]
Alleles
There are 8 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa20049 | Nonsense | Available for shipment | Available now |
sa20050 | Nonsense | Available for shipment | Available now |
sa1907 | Essential Splice Site | Available for shipment | Available now |
sa9933 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20049
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000076469 | Nonsense | 222 | 938 | 5 | 22 |
Genomic Location (Zv9):
Chromosome 3 (position 32521024)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 32252334 |
GRCz11 | 3 | 32384048 |
KASP Assay ID:
2259-3650.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTCTTTTCTTTTAGGGTGTAGTCACCGCTGCCATCTCTTTGATCACCTG[T/A]CTCAGCCAGAAGAATCCTGATGAGTTCAAGACCTGTGTGTCACTTGCCGT
Long Flanking Sequence:
AATAGTGTCTTATCCTAACAAACCAAACATCAATTAAAAGCTTATTTATAACTTATATATTTCATGTCATGTATGGGGGAATTTGACCCCTTTTGGTGTTGTGGTCGAGTGTGTGTGTGGGTTACTTAAGACCTAAACATTCATTTATTTATAAGTTAATTTAAGTGAATAAGGGCTGCAGTAGATGGCTAATATAGTTCCTATTCCAATAACAGGGACACAATGGATAGTGTGAAGCAATCAGCCGCGCTCTGTCTGCTCCGCTTGTATAAGACCTCCCCTGACCTGGTGCTCATGGGTGAATGGACCTCTAGAGTGGTGCACCTGCTCAATGACCAGCACATGGTGAGTCTGGCACGCAGGAAACCACAACCTAATCATGTTCACACATCCTTGTCAAAAATATGCATGTTTTTGTGGGGTTATATTTTGTGTTCTTTGGTTTCTGATGTTCTTTTCTTTTAGGGTGTAGTCACCGCTGCCATCTCTTTGATCACCTG[T/A]CTCAGCCAGAAGAATCCTGATGAGTTCAAGACCTGTGTGTCACTTGCCGTGTCTCGGCTCAGCAGGGTAAGTGTGTGATGTGTGTTTATATTAATGTGTTGCTGTCTGAGCACTGTCTGCATTTGGCCGTGTCTATAAATGCGGTGTGAAATTGACATAAGCACCAGTGATTATAAAAATAAACTACAGCTTAAGGTTCTAGATCATAATTTACAAACTCACAGCTTATAAAATATAGATTAATAAGTCTTGTCTAATAAGAGACTTTTAGAAAAAATGTTTTGTCAGCTAAATGGGTACTATTTTGTTAAACCACACAATCTTTAAAAACCCCATACTTCTCTCACTACCTTGTTTCTATTCCTGCTCTACTCTTAATTTATTGTTTCTGTACCTGTCTTTTCCTTTGTTCTGCTTGCAAGTTTTTCTTAGATGTGCAACAAATGGTAGTTCTTAGTACAGTTAAAGTCAGGGAAAAAACATATTTTTAAACAAATTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa20050
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000076469 | Nonsense | 554 | 938 | 11 | 22 |
Genomic Location (Zv9):
Chromosome 3 (position 32526535)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 32257845 |
GRCz11 | 3 | 32389559 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGTTTCACCTGTGCTCAGTTCCCACCCGTGCCCTGCTGCTGTCAGCCTA[T/G]ATTAAGTTCATTAATTTGTTCCCGGAGACAAAGAGCACCATTCAGGAAGT
Long Flanking Sequence:
CTCAAAATGAATGAAAAAAGGGCATCCTCTACGTAAAACATATGCTGTTACAGTTTAAATACTGTTAGACTCTCAAAAAAACCCATAAAACATGGTTTATTTTTTCTATGTCGTATTTATAGATGTTTGTTGTTTGTTACGTTTTATGCTGATTTCTTCATATAAAAAGACTTGATCACCCCAGTAAATCTAAATTCATGAAATGTTCCTTAATAGAGCGATTTAGATCAATTAGCGAAATTATATTCATATTTCAGCAAAAAAATAAATAAATTGCAATGTCAGATTTATCCCAATATCATGGAGCCCTAAATTGTATGTATTGATGATTTTTTCTTGTTTTTTTTCATCTCTCTCTTACATCTTCAACCTTGCACTTTGCTTTCCTTCGTCCCATTTCTTTTCTTCCATCTCACCAGCCCTCTGGTTCAGTTTAACCTGCTCCACTCCAAGTTTCACCTGTGCTCAGTTCCCACCCGTGCCCTGCTGCTGTCAGCCTA[T/G]ATTAAGTTCATTAATTTGTTCCCGGAGACAAAGAGCACCATTCAGGAAGTGCTGCGCTCCGACAGCCAGATCAGAAACAGTGATGTCGAGCTGCAGCAGAGAGCAGTCGAGTATCTCAAACTGTCCTCCATCGCCAGCACTGATGTCCTGGTGAGATCTCACACTTTTGCACACATTTTGTTGATTTGTGTCTTACTGATAGCTTGCATAATCAACTATATTGCTGTGTGTGACTGCAGGCCACAGTGCTGGAGGAGATGCCTCCATTCCCAGAGAGAGAGTCGTCCATCCTGGCCAAGCTGAAAAAGAAGAAAGGACCAGGAGCCGTGTCTGTAAACGAATTAGAGGAGGGAAAGAGAGAGGGAGGAGAACTAAATGGGGGAGGAGGAGAGAGAGGAGGAGACAACTCCACCATTGCTGCATCTAATGCTGTGAGACACGAACTCTCTTAATTCAAAACTATTTAATACAGTTGAAAAGTTGGGTTAGCGTTTTTATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1907
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 |
---|---|---|---|---|---|
ENSDART00000076469 | Essential Splice Site | 707 | 938 | 15 | 22 |
Genomic Location (Zv9):
Chromosome 3 (position 32528651)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 32259961 |
GRCz11 | 3 | 32391675 |
KASP Assay ID:
554-1897.1 (used for ordering genotyping assays)
KASP Sequence:
TGGTTGATGTGTTCTCGGAGGCTGGTGTCAATGATGATGGCTTCCTGAGG[T/C]AAATAAGCATCTGGCTCATTACGATCCAGTCTTYTGTGCATTATTTCTTG
Long Flanking Sequence:
CTCAAGTTCTCCTTTCATCAGCCTTGTTCCTTGTGAACGTTATTTCCTCTCAGACTGGCGCTTCAGATTGGATCTGCCAATTTCATGTAGTTCTTGCCATTTATGTTGCCAATATGCATCAGATGGTCAGTGCTCATACTGTGGGCTGCTTGTGGGCTGATGCTAAAACGAATATGTGGCAAACTTCAGCTGCTGCACATGTTTGCATTGTACAGGGAAGTGAGTCAGCAAATACAGAACAATCCCTGAGAAAACAACCACCCACTGCACACATCCTGATTCAGATGCTTTCTAATGAGACCTTTAGCTCTTCAGCATTTGCTTATTAAAGCCAACTTCAATGTCATGAATGCTTTCTCTTTCAGTCCACTCCGTCCCCATCTGCTGATCTGCTGGGGCTCCGCACAGGTCCCCAAGTCAGTGCCGCCCCTCCCAGTGCAGGCAGCTTATTGGTTGATGTGTTCTCGGAGGCTGGTGTCAATGATGATGGCTTCCTGAGG[T/C]AAATAAGCATCTGGCTCATTACGATCCAGTCTTTTGTGCATTATTTCTTGAGCTGTAAAGTACACTAATATTTTAACCTGTTCAGAGCTATATATATACGTGTCCGTCAGGCTTTCTGCTCTTCTGTGGTTGCACTTTCTCTATTGCTTGTTGTTCTTGTCTTCCTCTTTGTCTGTTCTGTAATCTTGTGTCTTTTATCTTGCTGCGTATGTGACTGTCTTTCTCTTTTCTTGCTTCTTTTTTTCTCTTTCTCTTTCCCTCCCATTTCCATCTCCCTCATTTTGGTGTGTGTGTGTGTGCGTGCACATGTTTGTGTGAATGTGTGTGCACGTCTGACGTCCTTGCTTTTCATTGGACTATGGCAGAGATCTGGAACCTCCCACTGAAAGCTCTGACTCCCTATTGGCTGAGGGTCCTGGTGACTCTGAGTAAGGGGCCAGTGGTAGACTACAGTGGCAATATGTTATTGACATTCAATAGTCACATGATGTTGTGTAAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9933
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000076469 | Nonsense | 778 | 938 | 18 | 22 |
Genomic Location (Zv9):
Chromosome 3 (position 32533526)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 32264836 |
GRCz11 | 3 | 32396550 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACTGAGYCCACAGCTCAATGTTCAGGCTAAACMAGTGGAACCGCTCATC[G/T]AAGGGGGTGCTCAGGTGCAACAGGTCATCAACATTGAGTGTCTGGGTGAC
Long Flanking Sequence:
GTTTGATACGAAATATCGAAAAAAGCCATTTTACAAGTGAACAGGCTTCAAAATTATCAAGTTGTTTACTGGCGATGACAACTTATAAACATCCATGTAGTCTATTTATAGGGTTCAATTTGTCATGCGAGTCATATTTTAGAGAAGGTCTAAGATTTATTAGGCATCAAGCTGTAAAATCCAAACACTGAATCGTTTCATACTGCACATTTTTGGCATTGCAGTGCAGAGTTGACACGGCAAAAGCAGTGTTTCATATCCCTGTGTAAAAAAAAAAAACTGGACTACTTCTGCTTCTAATTTACAGGCATAAAACTTTTCTATACCCTGGGCTATAAGAAGGGGTTAAAACGATGATAGCCCAGGCTTAAGTGTCTAATGTGGTTTAAAACGTGCTGTTTTTCCTCATCTGTCATTATCAGTGTATGCTAGGTTGTTGTTTTGCTCCTTGACTGAGCCCACAGCTCAATGTTCAGGCTAAACCAGTGGAACCGCTCATC[G/T]AAGGGGGTGCTCAGGTGCAACAGGTCATCAACATTGAGTGTCTGGGTGACTTCTGTGAAGCACCGCTCCTCAACATCAAGTTCAGGTGACAGAAGCACTCGTTTAAATGGTTTATGACTGAGGAAGCATTCACTCTGAAATTAATGCTGCTGTTGTGCTGTCTCAGGTATGGCGGAGCTCTCCAGAACCTCTCACTCAAGCTGCCCGTTACCATAAACAAGTTCTTCCAGCCCACAGAGATGGCGTCACATGACTTCTTTCAGCGCTGGAAACAGCTTAGCCAGTAAGTGTGTGTGTGTGTGTGTGTACACATGAGATAAATTACTGTTTACATCACAGTTTCGTGAACAACGAACATGTTTAATTTCATTCTCACAGGCCTCAGCAAGAAGCACAGAAGATCTTCAAGGCCAGCCATGCCATGGACACTGAGGTGATCAAAGCTAAGGTGGGTTTACATACGCTTATATTAACTGTAAGGACAGACTACCCTGTGAACT
Associated Phenotype:
Not determined