ZMP
LOC797914
Ensembl ID:
Human Orthologue:
SMPD2
Human Description:
sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) [Source:HGNC Symbol;A
Mouse Orthologue:
Smpd2
Mouse Description:
sphingomyelin phosphodiesterase 2, neutral Gene [Source:MGI Symbol;Acc:MGI:1278330]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa33978 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa15945 | Nonsense | Available for shipment | Available now |
sa40801 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa33978
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 |
---|---|---|---|---|---|
ENSDART00000074602 | Nonsense | 289 | 436 | 9 | 10 |
Genomic Location (Zv9):
Chromosome 6 (position 54654261)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 54690995 |
GRCz11 | 6 | 54699103 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGAGGCTCTCACTGCCCAGTTCCTGTTTACACCAACTAAAAAGGGGAAT[A/T]AATGTGCAGAAAACAAATCCGGCTGTGTTTTAGGTAATTACACTTCAGTT
Long Flanking Sequence:
CAGCTGTATTTTTCCACAATAAAGCTCTTCAGTCTTAAACAACAGCTGTTGATAAAACTGTACATCAACCAGTTGGATGTACATTATCCTTTACTTATTGCCTTAATTCTGAGTAATCCTGCACTTTCTGCACTCTTGTCACCAAGACAAATTCCTCACACATGTAAACAAACTTGTCAATGAAGCTCATCCTCCATCTTCTTCTACTCTGGTTTAGTAAGTTGAACAAACCTCAAGCCAAAGTCTTAGCCTTTGGCATTTAACACATCTTGCAGACATGAATAAAGCCTCAGAGAACTTCTGGTTGTCTAATTATAGCTTTCTTTTGTGCGCATGAATGCTAACAGTGTTGTTTGTGTGAACAGGGATCAGGGGAAGTGGATGTGAGCTGCGAGTCTTTGTCCACTACTAAGGGTCCTGTTCCTGGACAGCCGTTTCCGTACTCTGACCACGAGGCTCTCACTGCCCAGTTCCTGTTTACACCAACTAAAAAGGGGAAT[A/T]AATGTGCAGAAAACAAATCCGGCTGTGTTTTAGGTAATTACACTTCAGTTTTGAGATCTTGGGTCAAAAACATCTTGCCAGTAAACTAAATAACTATTAAAGTTTGGGTGTTTTTGGCATGTGGAAGATTCATTAGAGGAAACGCTAGAGCAAAACTTGTATTTACTCATTTACATTTCAGGAACTCTCATATTGCTACAAACCTGTATATTATTATTATTATTATTATTATTTTTAATTATTAAATGATATTCACTCACTGGCCACTTTATTAGGTACACCTTACTAGTACTGGGTTGGACCCCCTTTTGCCTTCAGAACTGCCTTAATCCTTTTGACATAGAGTCAACCCTGGAAAGATTCCTCTGAGATATTGGTCAATCGGTACTGAGCCCAAAGTGTGCCAAGAAAATCTCCCCACACCATTACACCACCACCACCAGCCTGAACTATTGATGCAAGGCAGGATGGATCCATGCTTTCATGTTGTTGATACCATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15945
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000074602 | Nonsense | 367 | 436 | 10 | 10 |
Genomic Location (Zv9):
Chromosome 6 (position 54657236)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 54693970 |
GRCz11 | 6 | 54702078 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCGTTGTTTGCTCTKGGAGCCGAACAGCCYTTTCCTAAAGCCACCTTCTA[C/A]CTGCTGGGGGCGCTGTGCTTTGCCATCCTGCTCTCCACACTKATGCTGTA
Long Flanking Sequence:
AGTGTTACCAAATGTCTTAACAGTCACTTTGAATATAACTATAAATTTTAAATGTTGATTATATTTTTATACTTTGTAATTTTTCTACAACCACATACTCTATATCGAAAGTCTTTAAATAGTTAATACTTGTTTTTATTCTCTAACTTCTATCTCTCTAAATATAGATTCTTGTTGTTATTATAATTATTTTTAATATTGTTGTTATTATTTTAAGGTCACGAGTGGTTGTGTAAAGCATTTTACTGCATATCATATTGTTTGAATTTGATTTGATTTGAATTGGTTTATTTCTCAGATGATCTTCCTGAGCTGGTCAACACAGTAAATGAAGCTCGTACTGAAGTAAAGGTGGGTCTGCACTGCTCTGAGGGCATGCGCTACACCGCGGCCCGTACAGGAATCATGGGTCTTGTCCTGTTAATACTGGAGCTGGTCATCGCCGCCATCCCGTTGTTTGCTCTTGGAGCCGAACAGCCCTTTCCTAAAGCCACCTTCTA[C/A]CTGCTGGGGGCGCTGTGCTTTGCCATCCTGCTCTCCACACTGATGCTGTACATCTTCTACAGTATGGAGGTGAAGGCACTGCAGGGCACTGAGGACCAGATGAGACTAGCAGTTAGTAGCCTTCAGGAACAGCTTAAGGAGTACCCCAAGGTTCTGTTCTCGGACCGTCAGCAAAATCCACTCGATTGCAAGAATCTGGCTCATTTGTAGATTTTTAGCAATGGAATTATAACTAATAACTAATAATTAATGGTTCATAACTTAATAATAGGTAGGTAATAAGCCAGTAGTTAAGTAGCCTTGAGGAACAACTTAAGAGGTCCCCTAAGGTTTTGCCCTCATACTATCTGTGAAACCCACTTGAGTGCAATAATTTGGCTCATTTGCAGCTTTTTAGCAATAAAATCACACTCTATAACTAGTAACGAACAGTTCATATCTTAATAATAGGAAGGTAATAAGCCAGTAGTTAAGTAGCCTTCAAGGACAGCTTAAGTAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40801
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000074602 | Nonsense | 411 | 436 | 10 | 10 |
Genomic Location (Zv9):
Chromosome 6 (position 54657366)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 54694100 |
GRCz11 | 6 | 54702208 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCAGGGCACTGAGGACCAGATGAGACTAGCAGTTAGTAGCCTTCAGGAA[C/T]AGCTTAAGGAGTACCCCAAGGTTCTGTTCTCGGACCGTCAGCAAAATCCA
Long Flanking Sequence:
TGTTTTTATTCTCTAACTTCTATCTCTCTAAATATAGATTCTTGTTGTTATTATAATTATTTTTAATATTGTTGTTATTATTTTAAGGTCACGAGTGGTTGTGTAAAGCATTTTACTGCATATCATATTGTTTGAATTTGATTTGATTTGAATTGGTTTATTTCTCAGATGATCTTCCTGAGCTGGTCAACACAGTAAATGAAGCTCGTACTGAAGTAAAGGTGGGTCTGCACTGCTCTGAGGGCATGCGCTACACCGCGGCCCGTACAGGAATCATGGGTCTTGTCCTGTTAATACTGGAGCTGGTCATCGCCGCCATCCCGTTGTTTGCTCTTGGAGCCGAACAGCCCTTTCCTAAAGCCACCTTCTACCTGCTGGGGGCGCTGTGCTTTGCCATCCTGCTCTCCACACTGATGCTGTACATCTTCTACAGTATGGAGGTGAAGGCACTGCAGGGCACTGAGGACCAGATGAGACTAGCAGTTAGTAGCCTTCAGGAA[C/T]AGCTTAAGGAGTACCCCAAGGTTCTGTTCTCGGACCGTCAGCAAAATCCACTCGATTGCAAGAATCTGGCTCATTTGTAGATTTTTAGCAATGGAATTATAACTAATAACTAATAATTAATGGTTCATAACTTAATAATAGGTAGGTAATAAGCCAGTAGTTAAGTAGCCTTGAGGAACAACTTAAGAGGTCCCCTAAGGTTTTGCCCTCATACTATCTGTGAAACCCACTTGAGTGCAATAATTTGGCTCATTTGCAGCTTTTTAGCAATAAAATCACACTCTATAACTAGTAACGAACAGTTCATATCTTAATAATAGGAAGGTAATAAGCCAGTAGTTAAGTAGCCTTCAAGGACAGCTTAAGTAGTCCCCCAAGGTTCTGTACTCGGACCATCTGCAAAACCCCCTTCAATGCAAGAATTTGGCTCATTTGAAGCTTTTTAGCAATGGAATCATACTTTATAACCTGTAATAAACAGTTCATATCTTAATAATAGG
Associated Phenotype:
Not determined