ZMP

zgc:193725

Ensembl ID:

ENSDARG00000090912

ZFIN IDs:

ZDB-GENE-021206-13, ZDB-GENE-080723-11

Description:

Epididymal secretory protein E1 [Source:UniProtKB/Swiss-Prot;Acc:Q9DGJ3]

Human Orthologue:

NPC2

Human Description:

Niemann-Pick disease, type C2 [Source:HGNC Symbol;Acc:14537]

Mouse Orthologue:

Npc2

Mouse Description:

Niemann Pick type C2 Gene [Source:MGI Symbol;Acc:MGI:1915213]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa23159	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa23159

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

Mutation:

A > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000002945	Nonsense	105	149	3	4
ENSDART00000050399	None	None	149	None	5
ENSDART00000124663	None	None	149	None	4
ENSDART00000132754	None	None	149	None	4
ENSDART00000139875	None	None	149	None	5
ENSDART00000140551	None	None	149	None	5

Genomic Location (Zv9):

Chromosome 17 (position 43066703)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	43031378
GRCz11	17	43021916

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CAATTGACGATGGGTGCAAATCTGGGATTCAGTGTCCGATTGTTCCACAG[A/T]AACCTTACAACTACGTCACCGAGCTGCCAGTCAAGACTGAGTATCCAGCA

Long Flanking Sequence:

CCGTTATTTTACTTTCCTTTCTTGCATACACTTGTGCTGATCCGGTCAAATTTGTGGACTGTGGTAAGTCTTTATTTTATCAAGTTTGTTTATTTAACAATTTGCATTATCTGTATTATTTTTCTCTAGGTTTAATTACATTTATTATCTTTAAAAATTATATTTCTACCTTGTTTTCTCCCTTAAAGGCTCAGTACATGGGAAAGTAGTTCAGGTTGACATCAAGCCCTGCTCCCAACAGCCCTGCCAGCTTCACAAAGGACAGTCCTACACCGTTAATGTAACCTTCATCAGCAGTAAGTTGCTTTATTATGTCCTTTAAATGTTCAAATAAATCTTCATTTAGAAAATTAACTATTAACCCTCTTATTTCCATAGGTGTTGCAAGTCAGACCAGTAAAGCTGTGGTTCATGGAGTAGTTGAATGTGTCCCTGTCCCCTTCCCTATTCCAATTGACGATGGGTGCAAATCTGGGATTCAGTGTCCGATTGTTCCACAG[A/T]AACCTTACAACTACGTCACCGAGCTGCCAGTCAAGACTGAGTATCCAGCAGTAAGTGTTAAAGCTTCTTCTCTAGTTCTAAGCAAGTCTGTAATGTTGTATATCTTCACTTAAATATTTATTTTTGTTTATTAGATAAAAGTGGTTGTGGAATGGGAACTAAGAGACGACTCCAGCAAAGATTTATTTTGCATCAAGTTCCCTGTTCAGATTGTAAACTGAAAATCAACACAGAAGCCAGGATGAAATGCAGGATACGATTATTAACAGAAGTATCTGAAAGATTGCCTGAGCAGGTTTTAGATTTCTTATAGATTCAGATTTTATGATAATAAAATTACATTTTCAAACCAAGACAGATTTGTCATTTTATTTTAATGTCTTCTCTTTAACTATATAGTCACTGTACAAGCATTGACAAATTTTTTTGTTGCTAAAATTGCATCAATGATTGACCGGGTTGATAAGCAGAGGTGATCTGAAGCTCTAGCTGCTGTGTGG

Associated Phenotype:

Not determined