ZMP
LOC100331179
Ensembl ID:
Human Orthologue:
ACER2
Human Description:
alkaline ceramidase 2 [Source:HGNC Symbol;Acc:23675]
Mouse Orthologue:
Acer2
Mouse Description:
alkaline ceramidase 2 Gene [Source:MGI Symbol;Acc:MGI:1920932]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa1734 | Nonsense | Available for shipment | Available now |
| sa7112 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa1734
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 |
|---|---|---|---|---|---|
| ENSDART00000111797 | Nonsense | 29 | 277 | 1 | 6 |
Genomic Location (Zv9):
Chromosome 7 (position 75219364)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 71290352 |
| GRCz11 | 7 | 71531493 |
KASP Assay ID:
554-1679.1 (used for ordering genotyping assays)
KASP Sequence:
CAGGCTGGCAGCTCCGAGGTGGACTGGTGTGAAGGGAATTACCTTATTTA[T/A]CCGGGAATTGCGGAATTTTATAACACGGTACGTCGCTCAGATGTTTCTTT
Long Flanking Sequence:
AAGCTAATTTGTTTATATTACAACCGTTATTGTATTATCATAGCAGATATTACTGAATTACATCAACGAATTAATTCAAGTACTTTACTATAGTATGTTTTAAAAAGTCACAACAGTATTTATTTTCTATCCATTACTCTTTGTTCTGCTCGGTTTGTTTCGTCTGGAGCTCATGATCTGCCCTCTGCGCATGCGCGATCACATGTTGCTGTGTTGTTATTGCCAGTGCTCTACAGTACAGTCAGTGAAGGGCAGACAGCACACACTCACAGAGTCGACCTGGATTATATAGACTCGGACTGGATGGCAGGATGACATGCTCAGATGAGAACACACTGATTCAAACAAACAGTCGCTTTTTACGCGTGTTATTAAAGCTGTCGACGTATTTCAGTCCGCGTCAGTCCAGCTGAGATGATGATGATGGACGCGCATCTGTGGGATCATCTCCAGGCTGGCAGCTCCGAGGTGGACTGGTGTGAAGGGAATTACCTTATTTA[T/A]CCGGGAATTGCGGAATTTTATAACACGGTACGTCGCTCAGATGTTTCTTTGTTCGGTTGTTGTGTCACTTTGGGTCGCGCGCGTTTGAACGACTGGCAGTTGAAGTCTGTAACTGTTGAACTTTGGAGCAGCTCAATATCCAAAACAAAAGAGATTAACAACCCTTTATTGTTATTATGCTGTAAAATAATAACAAATACAAATACAGATTTGAAATGTAAGACAATGAGGGTTACATACATTAAACCAAGACTAATTTAACGTTATTTTGTATTATTTTGAACCATAGTATCGTTATAGTAGCGTAACGTAACGTATCGTTAAATTAACCTTCTGTTGTGGTAACTAGTAATTCTATGGTAATACAGTAACTACAGGAATACAAACCGATTACCCAAATAACATAAGGTTAGTTTTCTATTTTAAAATTAATAACTACAACACACCAGTAAAAACTAAAGTATACTACAGTATTTATTACAGTTATCAGTTCACTTTAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7112
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111797 | Essential Splice Site | 124 | 277 | 3 | 6 |
Genomic Location (Zv9):
Chromosome 7 (position 75213230)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 71284218 |
| GRCz11 | 7 | 71525359 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCATGTGGTTTCCCAAGAGATACCTGCCCAAGATATTCAGRAGAGAYAGG[T/C]ACGMTAGCAGATACAYACAGACATCYAATTATACTGCGGACAGAGGTGGT
Long Flanking Sequence:
AGACTATCGAAAACAAATATAGCTTAAAGGGGCTAATAATTTTGACCTTAATTGTTTTTTTTAAATAAAAACTGCTTTTATTCTAACCAAAATAATACAAATAATACTTTCTCTAGAAGAAAAAATATTATCAGACGTACTGTGAAAATTTCTTTCCTCTGTTAAACATCATTTAGGAAATATTTAAAAAAGAAAAAAAATCAAACGGGTATATATATATATATATATATATATATATATATATATATATATAAACACTAATCTCTGCCTTGTTGATTAATCATGTTAAAGCATGATGCATTGTGCAATAAATGTTTTAATACAGTTTTGTGTTATAATTTGATTGCTCTCCTTTAGGCATCGGCTCCACTTATTTCCATGCGACCCTGAGCTTTCTGGGTCAGATGCTGGATGAGTTGGCCATACTGTGGGTGCTCATGTGTGCCATCGGCATGTGGTTTCCCAAGAGATACCTGCCCAAGATATTCAGAAGAGACAGG[T/C]ACGCTAGCAGATACATACAGACATCCAATTATACTGCGGACAGAGGTGGTTTCAGGATTGTATAGCCCCCAATGAGGCACATTTATATTTATATAATATAAAATAAAATGCTAAAATAAAATAAAGGGACTATTTTTAACAGCAGATGGCGCTCTAGGCTAGTGTTTAACAGCAGATGGCGCTCTAGGCTAGTGTTTAACAGCAGATGGCGCTCTAGGCTAGTGTTTAACAGCAGATGGCGCTCCAGGCTAGTGTTTAACAGCAGATGGCGCTCCAGGCTAGTGTTTAACAACAGATGATGCTCTATGCTAGTGTTTAACAGTAGATGGCGCTCTAGGCTAATGTTTTACAGCAGATGATGCTCTAGGCTATATTTTAACAGCAGACGGAGCTCTAGTTTAGTTCTTACGGCCATGATGGCAGTCACTGGCTGTTTCCGAAATCCCCTACTATTTGATTAGGTACTAAATTGGACTTTTAATTTACTACACGGCCATTAG
Associated Phenotype:
Not determined