ZMP
atp8a2
Ensembl ID:
Human Orthologue:
ATP8A2
Human Description:
ATPase, aminophospholipid transporter, class I, type 8A, member 2 [Source:HGNC Symbol;Acc:13533]
Mouse Orthologue:
Atp8a2
Mouse Description:
ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 Gene [Source:MGI Symbol;Acc:M
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa18573 | Essential Splice Site | Available for shipment | Available now |
sa24493 | Essential Splice Site | Available for shipment | Available now |
sa16737 | Essential Splice Site | Available for shipment | Available now |
sa18465 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa18573
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 |
---|---|---|---|---|---|
ENSDART00000109848 | Essential Splice Site | 169 | 1189 | 5 | 36 |
Genomic Location (Zv9):
Chromosome 24 (position 22062921)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 21309799 |
GRCz11 | 24 | 21454973 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTTTYCAGTTCTGCGTAACGGAGCATGGCAGACCATCATATGGAARCAG[G/A]TAACCCTGTCTTTTGCTCTTTTCCTGCATCTGTTATTCCYCTTTTCTGTG
Long Flanking Sequence:
TTGTAAACTGATGGTGCTTTTGAATAAATTTGCAAAAAAATAAAAAGTATGAAATATAAAAACGTTCCCTCAAAAAGATAAAAAGGCCCCTGAACATCTAGTTTTTAGTTTTATATGCTATGGAAAACAATAAGAGACCAGTTGAATATTCTTAAATTCTGAACATGCTGCAAAACCAAAGGTTTGTAAATCTGCCATGCTTTCAGACATGTTTACATTATTTTAAAAATTAATATTGAATGGAACAACCCTGAACAACCTTTTTGAGTTATGATTATCCATTGTAATGTGGAATAAAACAAATATTAACATTTCACTTAAAGCCATAACTTGTTAATCCAGAGAAACTGAGAATTTCCAAATGTTAACTTAATTTTTTTTCCCCCAAAGTCATGGAAAGTAACCTTATCTCATGTTTAAATATTCACGACGAGAGTTCATGATATCATTGTTTTCCAGTTCTGCGTAACGGAGCATGGCAGACCATCATATGGAAGCAG[G/A]TAACCCTGTCTTTTGCTCTTTTCCTGCATCTGTTATTCCCCTTTTCTGTGTTTCCATCCTTTACATCAAGCTTTAATTTCTGTCCTGTAATTTTATTTGACTAACACCTGCTTTTTCAGACCCCCTATCGCTGCAGTTATTTTACCAAAATTTTTTTGTGCATCCTGCTATGTGTTGCACCTTTTTCTTTGGTTCAAGCACTCGTGGTCTCTCTCTTACTCTCATTCTCTCCCTCCTCATGCTGTTGCAATGCTGCACCTGCCCACTAGGTGGCAGTGGGAGACATAGTCAAGGTGACCAATGGGCAGCACCTCCCGGCTGACATGGTCATAGTGTCCTCCAGGTCAGCACCGCAGTGTGTTTTTTTTTTTTGTGTGTGTATCTATGGGGTTTGTTGTGCTGTGTTTGTGTTGTAAATATATTTAAGTGTGTTACACTTTTATTTGTTTGATGTTCAAAATCTGCTGTTTTTGTCACAGTGAGCCTCAGGCAATGTGTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24493
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 |
---|---|---|---|---|---|
ENSDART00000109848 | Essential Splice Site | 422 | 1189 | 12 | 36 |
Genomic Location (Zv9):
Chromosome 24 (position 22056285)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 21303163 |
GRCz11 | 24 | 21448337 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACTCCCGCTATGGCTCGAACGTCCAATCTGAATGAAGAACTCGGCCAAG[T/C]AAGAAAACACATTTACAAATGTTTATCTACCTCATCTCCATTACATCTCA
Long Flanking Sequence:
TTATAAATAAATTGCATAGATGCGATCTAAACAATTACATTCTTGACTAAAAGCCTCAAAAATGCATTATGTTGTCCAACAAGTGCAATATTTGTCAAACTGTAGTGATTTTATTGATCTTCTTTTAGTATTAAGTAAATGCAAACCTAAATTTTGTGTGTGATTTATTGTTTAACATAACTAAAGGTGATATTTTGTCATTGTCATTTAATATGTCATTAATCTGGAAATTTTTCTCTACACGTACATAGATTATGTAAATACAAATATTTATTTTGAACATGATCGGTCATGATTAAGCATTAAATATCACTAATTACATTAGTTTCAACTATTCACTCTAAAAAAAATTTTTTTTCTGTAATTTAAAAAAATAACCGTACATAACTAAGATTGTGCTTTTCTTGATGCTTATTTTCAGGATGTTGAGATGTATTACGCTGAGACCGACACTCCCGCTATGGCTCGAACGTCCAATCTGAATGAAGAACTCGGCCAAG[T/C]AAGAAAACACATTTACAAATGTTTATCTACCTCATCTCCATTACATCTCACCCACACTCTTCCTCTTTTTTCCAGGTAAAATATCTATTTTCAGATAAAACCGGCACTCTCACCTGCAACGTCATGCACTTTAAGAAGTGCACGATAGCTGGAATTACATACGGGTAATTTGAACGTTCTCTGGCTTTCGCACATCAATACACTCGCATTATCCTTGAGCTTTTTTTGCATCATTCTGGCTCTCTAAGCGTGCATTGATTTGTTACCTTTTGTTTATATTCGTGTAAGTGGCCACTGATCTATAACGCTGTCTCTTCAGGCACTTCCCAGACCTAGACTGCGATCGATCCATGGAGGACTTCAGGTCAGATGCCGCTGATTCTATCTGTATTCTGTACTCTGGAGAATATTACGCAGGCCTGAGAGGATAATGCACATTATTATGTTGAACATTAATGTCTCATTTCTGTCTTTTTGCAGTCATCTTCCCTCTACAAGTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16737
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 |
---|---|---|---|---|---|
ENSDART00000109848 | Essential Splice Site | 624 | 1189 | 21 | 36 |
Genomic Location (Zv9):
Chromosome 24 (position 22049872)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 21296750 |
GRCz11 | 24 | 21441924 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TAKTTACTTGTAGTGTTTTGCCTTATGATTATTATTRTTRTTATCATTTC[G/A]CATKTGCAGGGCTGAGGACACTGTGTTTTGCGTATGTGGATCTCGAGGAG
Long Flanking Sequence:
TTTATTTTTTAAACTTAAATAATGCAACTATTTATACTATATACTATCTATAAATCATGCACCTTTAAATATGTACTATGTCCATTAGGATGTACATTATGTACATACAAGAAATAATTATTTTAAAATATAAAGCAAATAATGATAAATTATAATTAATGTATATAATTAGTGTAATTCAAAATAATATATTTATCCTATTAATATAGTATTTAAATTTTTAAAAATTTATAATATTTTAATTTAATTTAATATTAATTTATAGTATTTTCATTATAGTTACATATATTATTTTTAACATTTTCATTTACATTGTTTAAATTGTTCTGGAAATAGACATATTTAATTAGCACATATTAAAGTAAATAATTCTTCATTTGCATATTTAAATGGTATTTGAGAAGTTTTGGCATCCTAAAATAGGTTTACAATTTGATTTGCAATTTTCAATATTTACTTGTAGTGTTTTGCCTTATGATTATTATTGTTATTATCATTTC[G/A]CATGTGCAGGGCTGAGGACACTGTGTTTTGCGTATGTGGATCTCGAGGAGGGGGCCTATCTGGAATGGCTGAAGGAATACAATCGTATTAGCACTGTGTTAAAGGACCGAGCACAGAAACTGGAGGAGTGTTACGAACTCATAGAGAAGGTATGTACTGTAATATATGCCATGTATGTCTAAGATGGCTGTTACATTTCATGTCAAGAGTGTGTTGAGTGCTTTTTACTACAGTTCTGATTCATATGGATGAAATAAGGTTGCCTAATGGGTTTGTTTACACATTAAAGTAAATAACTTATATTATATTAATAATTCACTTATATTATTGCTGTAGTTATGACGGTAATAGGCGACACAGTGGCTCAGTGGTTAGCACTGACACCTCACAGCAAGAAGGCTGATGGTTCGAGTACCAGCTGGATCAGTTGGTATTTCTGTGTGGAGTTTGCATGTTCTCCCTATGTTGGCATGAGTTTCCTCCGGGTGCTCTGGTTTCCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18465
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 |
---|---|---|---|---|---|
ENSDART00000109848 | Nonsense | 1048 | 1189 | 32 | 36 |
Genomic Location (Zv9):
Chromosome 24 (position 22000158)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 21247036 |
GRCz11 | 24 | 21392210 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTRGCTGTCTGGGGCAGCATGGTGCTTTGGATGCTGTTTTTTGCCGTCTA[T/A]TCTGCGATCYGGCCAACTATTCCTATAGCTCCRGATATGTTRGGCCAGGT
Long Flanking Sequence:
TATATTCAACTGACCATGACCTTCTTGATCTCCTCCTAGTTTTCTTATCTATACATTCATGAAATGTAAATCAAATATTAATGGGTATAAATAATGTCATGTATCAGCAGTATAGTTAGCAATTTACATAATTATATTCATGTAATATTAAATAAATAAAAAATACAGCATCTGAACAACGACTAGGTGTAGTAACCATAAAATAATCATAATAATTGACTCTGGTTTGTTGAATAATTAGAAAATAATGCACAATAAAGGTGTAACTGCATTAACAGACCTTTTTCCTTATTATGTTTTGCATGTTTTGTTGAATAAAAAAAAGATCCGTTTAAATTGAACCGTATATATACATTGTTTTACGTAACCACTATTTTAAAAAACGATCTGATTATTTACAAACCCAAAAACTGACCATGACCTCATTTTCCCTCCTTCTAGTTTTCTCATCTAGCTGTCTGGGGCAGCATGGTGCTTTGGATGCTGTTTTTTGCCGTCTA[T/A]TCTGCGATCTGGCCAACTATTCCTATAGCTCCGGATATGTTAGGCCAGGTGAGTGTAAACACACACTAACACACCTGCTGACGTTTGTGTTTTCTCTCTGTGCTCCTGTATTTAACTGCTACCCGGCACCTCCACAACTTGCTCTCTGGGTGTTCTGTGTCAGATTTATGAGCCAGCGTCCCATTTCACAGTCACCTGCACCTGCCACACAGTCACCCGAGCCCCAGGCTTTTACGGCCTACCCTGAAAGTGTTGATTCTTGCCATTGGGCTGGTTTGTACTGTGCTGTTTACATGTGTGTGTGAGACACCAGAAGGGATTTTCCTCATAGGGTTATATACTCAATGCGTATCTTTTATTTAATTCTGTTCTTTTGTTTTATATTGTTTGCTGAATAAATAGGCTGCATCCTAACTGAATGGAATTTACTAAAGTGCCAAACACCATTTTTGCCAGCACAGTGGTTCAGTGGTTAGCACTGTCACCTCACAGCAAGAAGG
Associated Phenotype:
Not determined