ZMP
LOC100002543
Ensembl ID:
Human Orthologues:
AKAP2, PALM2-AKAP2
Human Descriptions:
A kinase (PRKA) anchor protein 2 [Source:HGNC Symbol;Acc:372]
PALM2-AKAP2 readthrough [Source:HGNC Symbol;Acc:33529]
PALM2-AKAP2 readthrough [Source:HGNC Symbol;Acc:33529]
Mouse Orthologues:
AF064781, Akap2
Mouse Descriptions:
A kinase (PRKA) anchor protein 2 Gene [Source:MGI Symbol;Acc:MGI:1306795]
cDNA sequence AF064781 Gene [Source:MGI Symbol;Acc:MGI:3845895]
cDNA sequence AF064781 Gene [Source:MGI Symbol;Acc:MGI:3845895]
Alleles
There are 8 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa17580 | Essential Splice Site | Available for shipment | Available now |
sa15545 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17580
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000101431 | Essential Splice Site | 80 | 1266 | 4 | 12 |
Genomic Location (Zv9):
Chromosome 10 (position 4778660)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 4774954 |
GRCz11 | 10 | 4775258 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCAGCTGATGTTGATCAATGACCTSRTGGTAGAAAATRTTTCCGCCTTAC[A/C]GTCTAAAGCCATGAGGGAGAGRTGGCTTCTTCAGGGGACACCAGCGSCGC
Long Flanking Sequence:
AAAAGCCAACAAATAAAATAAACAAGTAATTAACAGGGTGAGAATGAACTACGTCATATCATTAATATCATTTAATATTTTTTAACTAATAATATTTAACAAAAACTTTTCTCCTTTCCCACAGCTGTTACAATTTCTAGCCAATAAATATTGATTATCTGGTTATCTCTATGATCATGGATCATTAAGATGTTTGTACAGTCGTACCTGTTTCAGACTAAATCTCTTTAAAGTGTTCTATTTCGCTCGTGTTTGCGCACTTCGCTCGAGTCCCAAAAAAAAAAAAAACATCACATTTGCCGCCCACACTCAACCAAACTAGCAGACACATTGAGTATAAACCAGACTCAAGGGGTAGAATTGGGATTGGGCCATAGATTATCATTGGATCTACCCTTGTAAGCAGTAATGTGTGGACAATTATTAATCTGAGTGCACTTTAAATAAGTCCCAGCTGATGTTGATCAATGACCTCATGGTAGAAAATGTTTCCGCCTTAC[A/C]GTCTAAAGCCATGAGGGAGAGATGGCTTCTTCAGGGGACACCAGCGGCGCTACAAGAGGAAGACGAAGACCGCAGGAAACAGGTTGAGCAAGATGAACTTCACATCAAAAGGCTAGAGGATACCATTCACAGGTACAGTGATGTTTTTGATGGTTATATATTTTACTGTTCAGTAAGTGGAAATGTATTCATTAAGAAGATGCGCCTAACTGACAAATTAAGAACTGCTCTGTGTGTGAAATATTACAAAGTGAAATTAAAACTGATATTTAAGTGCATGTTCTTTAAACCAATCACAATTAAACTACCCTCAATACTGGATTAAATCAATGTAGGCTCATTATGAAAAGCCCTATATACATTTCTGGAGATCAAATTATGTAGCCAGAGGTATGTATGGCCGCATTTCATCCTTAAAACAAACGATACGAGGCGGTAAAATGTCGTTGCTTTTCATACCTCAGTATGGACGAATTTTTCCGCTGTTACCAGTTTGTCCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15545
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 |
---|---|---|---|---|---|
ENSDART00000101431 | Essential Splice Site | 203 | 1266 | 8 | 12 |
Genomic Location (Zv9):
Chromosome 10 (position 4811303)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 4807597 |
GRCz11 | 10 | 4807901 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGCCACCCSGAGTAGACAYTAACCCACAATCATCTGCACTCTTCCCCAA[G/A]CATTATAYGCCATGGAGATCAATGTGGAGAAGGACCGGAAAACGGGTGCC
Long Flanking Sequence:
TGGTTGGTTGCGTTTTATTTCTTGCATTTAATTTCCCCCTGCAGCCCTTAAGTTGCAAGCCACCAGTTTAGAGCCACTGGCTAGCATCAATCCTATTAGCTGTATCAGAAACAGCTTTGGGTGTTTTTACATTTTTCCTAGCAGATTTCTTTTCAGCGGAAGCTGTTATTAATAACTCGAAAACAAAATTGCAAATCCGTCACCTATAATATAAGAGTAATGGTGCATTTCCATGAAAAATTCAAGAGTTGGTCGTCAACTAAGCTTACATCAGCATACAGCGGTTACTGGCAACAGCGTAATAACAGAGCAAAGGGTAGGTTGAATTTGTTTTTTTCGGCTCTGATTTTAATGCCAGTTATGAAACTGTACAAATATTGCATGGACATAGAGGCATCACTGAAAAAATCCCATTAATATCAAGCATGCCACTTTTTAGTAATGCATGATAGGCCACCCGGAGTAGACATTAACCCACAATCATCTGCACTCTTCCCCAA[G/A]CATTATACGCCATGGAGATCAATGTGGAGAAGGACCGGAAAACGGGTGCCACCAAGATCCTCTCAGCCTCGGCCGTCAGCCCGCAGGACGCTCACCAGAGGGGCGTCAAGGTCTACGACGATGGCCGAAAAGTGATCTACGAGGTGCGTTCTGGGGGATCGACTACAATGGAGAACGGCACGCATGCCTGGAGTCCCGGAGAGATGAACCAACTCATGCAACAAGTCGGCGGGAAGCAACAACCAAGTGACGGAGCACGGGTGACCGTCACGCCAGCGGAGCCACAGCAAACAGGAGGACAGCTGAGCGCCAAAGAGCCCAAGCAGGACAAGAAACAAAACCATAGCAAAGGCTACGAGGGGGAGGTCACGGAGACTCCGAAGGCCTCCGCTGACAAACCCGTCACCATGATCTTCATGGGATACCACAGCATTGAAGACGAAGAGGAGTCCAAGAAGCTGCTAGGCTTTGATGGCACCATCAAGGCCGAGATTGTCCTT
Associated Phenotype:
Not determined