ZMP

LOC797914

Ensembl ID:

ENSDARG00000052701

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 is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa15945	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa15945

Status:

Available for shipment
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Availability:

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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