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 are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa33978 Nonsense Mutation detected in F1 DNA During 2016
sa15945 Nonsense Available for shipment Available now
sa40801 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa33978
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
A > T
Consequence:
Nonsense
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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACGAGGCTCTCACTGCCCAGTTCCTGTTTACACCAACTAAAAAGGGGAAT[A/T]AATGTGCAGAAAACAAATCCGGCTGTGTTTTAGGTAATTACACTTCAGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15945
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
C > A
Consequence:
Nonsense
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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCGTTGTTTGCTCTKGGAGCCGAACAGCCYTTTCCTAAAGCCACCTTCTA[C/A]CTGCTGGGGGCGCTGTGCTTTGCCATCCTGCTCTCCACACTKATGCTGTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40801
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Nonsense
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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGCAGGGCACTGAGGACCAGATGAGACTAGCAGTTAGTAGCCTTCAGGAA[C/T]AGCTTAAGGAGTACCCCAAGGTTCTGTTCTCGGACCGTCAGCAAAATCCA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Height: Many sequence variants affecting diversity of adult human height. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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