ENSDARG00000041023

Ensembl ID:
ENSDARG00000041023
Human Orthologue:
NPTN
Human Description:
neuroplastin [Source:HGNC Symbol;Acc:17867]
Mouse Orthologue:
Nptn
Mouse Description:
neuroplastin Gene [Source:MGI Symbol;Acc:MGI:108077]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa8889 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa8889
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 2014.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000060116 Nonsense 204 344 12 18
ENSDART00000097332 None None 277 None 23
Genomic Location:
Chromosome 25 (position 30333454)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGAGGGAGAGGAAAGAAAGACGCGWGGCMGAAAAAGCAGGAGAAAGCACT[A/T]AAAGTGTGCCCAAGTTCATTTCCAGTCCTTTCACAAGCATCCTCAAAATG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/xgwaln35