ZMP
npc1
Ensembl ID:
ZFIN ID:
Description:
Npc1 protein [Source:UniProtKB/TrEMBL;Acc:Q5BLA0]
Human Orthologue:
NPC1
Human Description:
Niemann-Pick disease, type C1 [Source:HGNC Symbol;Acc:7897]
Mouse Orthologue:
Npc1
Mouse Description:
Niemann Pick type C1 Gene [Source:MGI Symbol;Acc:MGI:1097712]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa19662 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa19662
Status:
Available for shipment
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:
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103596 | Nonsense | 871 | 1276 | 18 | 25 |
Genomic Location (Zv9):
Chromosome 2 (position 4341960)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 2 | 4024213 |
| GRCz11 | 2 | 3855102 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGAGACCCTGTGTATGAATGGTCACTGTATTGCTGTTTCAGGACTCATA[T/A]GTGCTGAATTACTTTGGGAATCTGAGCAAGTATCTACACACCGGGCCGCC
Long Flanking Sequence:
TTAAGTATGATTTTTCTGTACTCTTTTCACCACTGATAATAAACCAGTGTACGTCAAGTATTCACAAGTAAATTCTGTCACTAAATATTTTTTTCTTACCTGTGAATCTTCTTTTCTCCTCCGCAGGTTGCTGTGTTTGTGGGAATGCTGTCCTTCAGCATTGCCGTTGTTAATAAAGTGGAGATTGGACTGGAGCAGACGCTATCCATGCCTGATGTGAGTGTTTATTGACAGTTTTGAATAATGGTCAGTGTTACATTAATAGTTGCTGTTTGTAAAGGTGTGATTCATTTATTTTGTGTGACGTGCGTTTGTGTTGCATTCATAGGTTATCCAAATTGAACCAATCATTGGTAATTTGCCTGCGTTCTTGTCTTAGGACCATTTTGAAAAAAAATTTTAAGCCACTTTAAATGTTGTCTGCTTTGTTTACCCGTTATGCCTGCTTTGTGGAGACCCTGTGTATGAATGGTCACTGTATTGCTGTTTCAGGACTCATA[T/A]GTGCTGAATTACTTTGGGAATCTGAGCAAGTATCTACACACCGGGCCGCCGGTTTACTTCGTGGTTGAAGATGGCCATGATTATAAGACGTTTGAGGGCCAGAACGCAGTGTGTGGTGGAGTCGGCTGCAACAACGACTCTCTGGTCCAGCAGATTTACACCGCTTCCCTCATGAGCAACTAGTGAGTGATGCTTTACTTTCAATCAACCAGTATTAATGGAGTTGCAAACATACTCTTTTTATTCATAGTTTAAATAGATTTCGTTTCAAGTGACCCAGTGCTTCCCACATATAGACTCTACCTGGGTAAAGTCATATTAACAGCCACCCAAGTATTTTTTTTTTGCCATTATAATCCTTTTGCACTTTTTTTTTAATCTGTCCTGGTAACCATCCACATTTAATTTAAAGTTTCATTTCGTACTGCCCCGTTGTGTGTGCCTGAAAACGGTCCCATAAACAGTTTTACATGATCAGCAGACTCGCAGAGACGTGCCTT
Associated Phenotype:
Not determined