ZMP
LOC564392
Ensembl ID:
Human Orthologue:
SMPDL3B
Human Description:
sphingomyelin phosphodiesterase, acid-like 3B [Source:HGNC Symbol;Acc:21416]
Mouse Orthologue:
Smpdl3b
Mouse Description:
sphingomyelin phosphodiesterase, acid-like 3B Gene [Source:MGI Symbol;Acc:MGI:1916022]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa28572 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa28572
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000002751 | Nonsense | 232 | 457 | 5 | 8 |
Genomic Location (Zv9):
Chromosome 16 (position 5660211)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 4886194 |
| GRCz11 | 16 | 4715483 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTTCAGCTGGGCTGATAAAGTGCTTCAGGATGCGGCCAAAAATAACGAG[A/T]AGGTAATTATATGCAAATATTTCCCAAATGATGTTTGACAGACTCAGGAA
Long Flanking Sequence:
ACTTAAATGGTTTGTTGGAATCGGTTTCCTCAAATGGTTTAGTTAACGCAACTTTTGGGGTTTGTGTGTGGAAGTGTTGCATTTCTCTGGTTTTAATTCCACAGCTTTCAGCCGTAATTGCACACTAATCTGACATTTTTGTTCGTAATTTTCGCTTGTTAAAAAATAAATTCGACCTCATGTTGTGTGAATCATATGGACACACTGCCTCCCATTCACTGCATAAAACGTGCTGGATAAGCTGGCGGTTCATTCCACTCTGGCGACCCATAAAGGGACTAAGCCCAAAAGAAAATGAATGAATGAACATTATTAATTTCTGCTCTTTCTCAGGTGGATATTACACTGAAAAGCTGCTGAATCAGACTGGATTGAGAGTCATTGTCCTCAACACAAACCTTTATTATGATCAGAACAAACTGACAGAGAAAGTCAAAGATCCTGCAGATCAGTTCAGCTGGGCTGATAAAGTGCTTCAGGATGCGGCCAAAAATAACGAG[A/T]AGGTAATTATATGCAAATATTTCCCAAATGATGTTTGACAGACTCAGGAAATTTTCACAGTAATTCCTATAATATTTTTTCTTCCGGAGAAAGTCTTATTTGTTTTATTTCGGCTAGAATAAAAGCAGTTTTAAATTTTTTAAACACCATTTTAAGGTTAATATTATTAGCCCCTTTAAGCTAGATTTGTTTTTGATTCTCTACAGAACAAACCATCATTATATAATAACCATAACTTGTTTAATTAACCTAGTTAAGCCTTTAAATGTCACTTTAAGCTGAATACTAATGTCTTGAAGAATATCTATTCAAACATTATGCACTGTCATCATGGCAAAGATAAAATAAATCAGTTATTAGAAATGAGTTATTAAAACTATTATGTTTAGAAATATGTTGAAAACTTTAACTTATTTCAGTTAAAGGGAAAAGGGCAAATAATACTGATTGAACTGTAAATATATAGTAAATATGCACAGTACAGTATTTACATCCTATTT
Associated Phenotype:
Not determined