ZMP
LOC100003793
Ensembl ID:
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 |
|---|---|---|---|
| sa41464 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa41464
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 |
|---|---|---|---|---|---|
| ENSDART00000111515 | Nonsense | 96 | 138 | 2 | 2 |
Genomic Location (Zv9):
Chromosome 9 (position 34692886)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 9 | 33925914 |
| GRCz11 | 9 | 33735099 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCGTTCAGACCCACTGATTTCTTTTAGCTCTGTCCTGAAGCAGCCTTTC[A/T]AAAATACATGTTTCTGCTGCCGTCCACACACCTCCAAACTGAAGGCAGTA
Long Flanking Sequence:
GTTTCCCCAGGGTTCCCCAGTTTCCTACTACGGTCCAAAAACATGCAACTTAAGTTAATTGACTACTCCAAATCTGGACCATAGACATGCTCCAAGTGAGAAGTTATCTCTTAAGAGCAATCACTATCTGTTCATTAGCTACTACAGCAGGGGTGTTTTCGAGATTGACCAGAGCTCAAACTCCCCTCTCGCCTTGCAAACAGGAGGGAGCCCTGGGCTAGAGGATCTTATGAGCTCAGGGCTCTCTACCGGGACAGCATGTCAAACAAGCTTTATAATTAAATCAATCATCAGCTAAGTCTAAACTTTTGAAAGACAATTAAATAGACAGAGAGATGGACAAACTAACATAACATAAAATCTTATACATCATGGCACTAATTCATTTTTTTTCTCCCTCTCTACAGATGGTCCTCCTGGCTCGATGTGAGGGTCACTGTAGCCACACTTCTCGTTCAGACCCACTGATTTCTTTTAGCTCTGTCCTGAAGCAGCCTTTC[A/T]AAAATACATGTTTCTGCTGCCGTCCACACACCTCCAAACTGAAGGCAGTACGTCTTCGATGCTCGGGTGGGACACGGATAACCGCTACTTACCGTTACATCCTTGCGTGCAGCTGTGAGGAGTGCAGCTGAATGAATTTGTCATGGAGAAAGACCCTCTGGGCTGAAACACACAAAAAAGTTTGAAGGTACACTTTATTGCTGATGATTCAGAGCAACCATTTTACGATTCATTAGCACTGCCGAAATGTTGCCAACAACCCATCGAGACTTCAAGAAGAATCACATCATGTGTAAAGCGGCGCATGCACTCGGATTTCCAGATGTCGGCCTGCTTGTCACACCAGCGCATGCGCTCAGCCAGTCAATTTACTTTTATTGCATTCCATTGTTTTGATCACTGCGTGTGTAAAATAGCGGATGCTGACAACAACATCGTAAATCTTGAAGGAAATTTGATGAAGCTAAGTGGGAGTCACTTTGGTGGACTACGTTTTACAA
Associated Phenotype:
Not determined