LOC100003793

Ensembl ID:
ENSDARG00000076569
Human Orthologue:
NDP
Human Description:
Norrie disease (pseudoglioma) [Source:HGNC Symbol;Acc:7678]
Mouse Orthologue:
Ndp
Mouse Description:
Norrie disease (pseudoglioma) (human) Gene [Source:MGI Symbol;Acc:MGI:102570]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa41464 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa41464
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 2017.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111515 Nonsense 96 138 2 2
Genomic Location (Zv9):
Chromosome 9 (position 34692886)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 33925914
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTCGTTCAGACCCACTGATTTCTTTTAGCTCTGTCCTGAAGCAGCCTTTC[A/T]AAAATACATGTTTCTGCTGCCGTCCACACACCTCCAAACTGAAGGCAGTA
Associated Phenotype:
Not determined

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