ZMP
ACP2
Ensembl ID:
Description:
acid phosphatase 2, lysosomal [Source:HGNC Symbol;Acc:123]
Human Orthologue:
ACP2
Human Description:
acid phosphatase 2, lysosomal [Source:HGNC Symbol;Acc:123]
Mouse Orthologue:
Acp2
Mouse Description:
acid phosphatase 2, lysosomal Gene [Source:MGI Symbol;Acc:MGI:87882]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa21028 | Essential Splice Site | Available for shipment | Available now |
sa13634 | Nonsense | Available for shipment | Available now |
sa21029 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa21028
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 |
---|---|---|---|---|---|
ENSDART00000022634 | Essential Splice Site | 56 | 411 | 2 | 14 |
Genomic Location (Zv9):
Chromosome 7 (position 40756901)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39093158 |
GRCz11 | 7 | 39364175 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCATACAAGGAGAGTGACTGGCCTCAGGGTTTTGGACAGCTCTCTCAGG[T/C]ATACACAAACACACATTCCATACCCTCTTTGTTTTTGTTTCATGCTTTTG
Long Flanking Sequence:
TGTTTAATAGTGTTTCATTTAAAGTGTGTTCTGGTTAATCACGATTCCTTGCAAATGAGGAAGTTTAAACCAGAGCTTGTCATTTTAAGCACGATTGAATAACATGGTTATAAATGAAAGTGTTCACTGTAAACCTTCATGAGACTGATAATGCAGTAACCGTCTCTCAGAGCTGAAACTTTCTAAACGTGGCTGGTTTCTGTGAAGCCCAGAGATGAAGATAAGGAGATAGACTGAATCTGTTTATCCAATTAGAATGTGTTTACAGACTTCTGTGGCTTGTGTCCGGGTGTCAGCATGAGCACATGACAAGCTCAGTTTGCTGATCTAGCCACTGTTGCACAGTGTAGTTCATTATCCTGAACACACACACTCATGAAGAATTTGACTTCCTCTCCCTCAGCTCTACCGACATGGTGACAGATCTCCGATTAAGGCCTATCCAAATGATCCATACAAGGAGAGTGACTGGCCTCAGGGTTTTGGACAGCTCTCTCAGG[T/C]ATACACAAACACACATTCCATACCCTCTTTGTTTTTGTTTCATGCTTTTGGGGGAGTATTATGCAGAATTTATCAGATGTATGCATGATGCATATTCATAAATGTTTCATCTGTGCAAATGTTTTCTTTTTCTTCCATTTTTGACCTCTTGGTGCGCAATTAAAAAGGCCACTTTGTGCCTGATCAAAATAATGTGAATAAGTGTAGTTTCACAAACTAATTTCGCTAGGAGCAGTGATATGATTGACTGCAGCTGGCCTCCCATCTACATTCATTAGTTAGCCAATCAGATTAATTCAAAATATCAGTAGCCTAGCTAGAACTACTCCCTTATCTTCGTTTTCCAAAGAAATCCCCCATCCACCCATTCTCCTCCTTTCCTCCTTTACCATGGGGAGCTCTCGAGAACAAGCTGATCTCGTACTCCCCTCACATGCTCTATGGACCAGGCGTTACCCCTGTGCTCAACTATCTCCGAGCACAGTGTTCGCTCCGGGGAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13634
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000022634 | Nonsense | 150 | 411 | 5 | 14 |
Genomic Location (Zv9):
Chromosome 7 (position 40759875)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39096132 |
GRCz11 | 7 | 39367149 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTCTTTTCAGCTACTCTCATTCCCACTAGAWAACTGTCCAYGTTACAAA[C/T]AGCTCATGAATGAGACTGCAAAAACGGATGTTTTTCTCAACATGACTGAA
Long Flanking Sequence:
TACACAGGATTCCTGAGTGAGGACTATAACAGATATGAGGTAACTATCCATTTAAAATTTTCCATTTACTAAACTTAGAGTTTGCTAGACTTCAGTTGTCTTTATTGTATTTGTGCTGCAGATATACGTTAGAAGTACAGATATTGACCGGACTCTGATGAGTGCAGAAGCTAACCTGGCTGGCATGTTCCCACCTAACGGTTCTGAGGTCTTTAACCCAGATCTGAAATGGCAACCGATACCAGTTCACACCATCCCGAGTGAAGAAGAGCGGGTAAGACATCACACTGAACCTTTGTTTTCTCTTTTTTTGCAGCATACTGTAACTTGGCCCTGACCTCTGTTTGGTGAGGAGGTCATATTTGCACAACAGCAGCATCAATAATTGCTCTTGGTGTTTGAATACATCACCTGCCTGCCTACAGCGTGTTTGGGTTTGATGTATTTGTTTTTCTTTTCAGCTACTCTCATTCCCACTAGAAAACTGTCCACGTTACAAA[C/T]AGCTCATGAATGAGACTGCAAAAACGGATGTTTTTCTCAACATGACTGAAACCTATAAGGTGAGTCCATCTACAGCAAAAATTCATTAATAAAAGCAGATCAACTGTCTGTGGACTTTTCAGTATTTAAATTTTTTACAGTGACTGTACCACAGTATAGAACAGAAGGAGCCAAACAGTAATACTCAAAGTTCAGTTGGTTTATGAATATTTATTAGTTTGCAATTTTTTTTATTTTAATCAGTAGTTGTAAAATTTAGTTTGGAATATTAATAGAAGAGTCTTCACTTCCTGTAAAACTTCTTTATTGTTGCAAATTTTATCATTTCTCAATTTGTTATGTTCGGTTCAATGTTTTTATTCCTCCCTTTGATTCGAAAATATTCTATTTTTAAGAATATACTAAATCCATAGATTTCTGACCCTGCGAACATAAATATATTTTGTAAGGAAAACATCACATTTGCATATATAGTTGGAGAAAAGGAACACCTTAATTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21029
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000022634 | Essential Splice Site | 309 | 411 | 9 | 14 |
Genomic Location (Zv9):
Chromosome 7 (position 40763832)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 7 | 39100089 |
GRCz11 | 7 | 39371106 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCACCTTATGCCTCATGTCATATGATTGAACTTTACCAGGAAGACAATGG[G/T]TAAAACATATATGCTCTATATTATCTTTATCAGCTTTTTCAGAAATTCAT
Long Flanking Sequence:
TAACAGTCCGTTTAAAAAAAAAAATATTTCATGGATATTTGAAAGCATTAAAACTAAATCAGGTTTCATCTGCTCTGAAAGTGGTTAAAATTGGACAATCTCAAAACAATTCTGATCCTATTTACTCTTTTTTACTTGGCATCAACAAAACCACATTTTTAAAGGGCACTCATTAAAATTCTCATCGGAAAAATTTTTGAGTGTTACTGGGGGTTATTACAAGACTTTTGAGCTTTTATGACTTAAAGAAATTGTATCATAATGGAGGTCAGCGAATTTACCATATATGGTTCCTAACACAATAATAGCAGGTATAAACAAGGCCTAAAGCTCCTAAATCCTGAACAAAGAAAGTTTATATAATATTCTCTCATCAATCTCTTTTCTCAATAGCACGACACAACAATTGTAGCCCTCCAGGAAGCTCTGAACGTCTTTAATGGTGTACAGCCACCTTATGCCTCATGTCATATGATTGAACTTTACCAGGAAGACAATGG[G/T]TAAAACATATATGCTCTATATTATCTTTATCAGCTTTTTCAGAAATTCATGCTCTAAAAGACATCTTTGGTCAACCAAAACATTCCACTGTTCATACCTTTCAGGATGTTTTCAGTGGAGATGTTTTATCGCAATGACAGCAGCGTGTCTCCGTATGCAGTGTCTTTACCAGGATGTTCTCAGCGCTGTCCCCTACAGGACTTTGTGAACATCACTCGTGAAGTCATTACACTGGACTGGAATAAAGAGTGTCAGCTGAGCAAAGCATCCACAGATTCAGGTAAACGTATAAGCATTAATAAACGTTTTTTATTGCTTACAACTTGAAACGACTATATTGGATTTACTGACTATTGTAGCTTTTTTTTGACAGTATTAGTCTTTATTTTGGGGAGTATAAGGCTGTTTCTCAAAATGCGTTCTTCAGCCATCTTGCGTCCTCGTGTTCTCATGTAACATCATCAACTGCCAAAGTTCAGTTTCAATACTCAAGAGCGCAA
Associated Phenotype:
Not determined