ZMP

zgc:152969

Ensembl ID:

ENSDARG00000015749

ZFIN ID:

ZDB-GENE-061110-115

Description:

Hermansky-Pudlak syndrome 3 protein [Source:RefSeq peptide;Acc:NP_001180471]

Human Orthologue:

HPS3

Human Description:

Hermansky-Pudlak syndrome 3 [Source:HGNC Symbol;Acc:15597]

Mouse Orthologue:

Hps3

Mouse Description:

Hermansky-Pudlak syndrome 3 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:2153839]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa10831	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa10831

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
Order Allele From EZRC

Mutation:

T > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000015103	Nonsense	361	1003	6	18
ENSDART00000059690	Nonsense	361	524	6	11
ENSDART00000140968	Nonsense	405	1042	6	18

Genomic Location (Zv9):

Chromosome 22 (position 41177528)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	22	38265167
GRCz11	22	38218314

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TTGTATGTTTGTTTTCTTCTCCTTGCCCAACACCGGCTACATGTACAGCT[T/G]AAAGTCTTCAGTGGAGCTCGTGTCCACATACCAGTACCCAGAAAAGGCCC

Long Flanking Sequence:

TAAGAAACACTAAAATAGACAGTTAAATAGATCTGGATATATGTAAACAAAATAAACTAAAACACCAACATTGCGTAAAGAAGATAAGAGTAGTTAAAACTAGTGGTGTAACGGATCACAAATCTCACGGTTTAGACCACGTAAAGGGTTTTAGTTTAGTTTTAGACAGTTGACGGGACAGTACACATCGAGTCTATGTCAAGTGCAATATAATTACAGTGGAAAATGAAAAAAAAAAAAAAAAAGAAATATATATATATATATATATATATATATATATATATATATGTAAGATGACCTTAAATGTAATTATAGTATCTCATTACACTCAACTAACACTGAACACGTTACATGCTGTCGCACACCCCTGTTTTCCACTCAATGGTTTCCTCCGTCTGATTGAACAGGTAAACAGGAAGAATCCTCCATCTCCAGATGTGGGGATCCTGATTGTATGTTTGTTTTCTTCTCCTTGCCCAACACCGGCTACATGTACAGCT[T/G]AAAGTCTTCAGTGGAGCTCGTGTCCACATACCAGTACCCAGAAAAGGCCCACCAGGCTGTGCTTAGTGACCAGTTCCTCTACGTCATCACCAGGTAGATTGTTCAGACTCTGTCCATACACACGCACACACACACACAGCAACTTTTGATAATTAACGGTCCCATAAAATTAAGACCAGTCACACAAAAAGTAATATATATATATACATTTTATTATATATAAATTTAAACTAGCATTTTTTACAATACTGCCATGCATATATTTCATTCATTCATTTGCCTTCGGCTTACTCCCTTATTTATCAGAGGTTGCCATTGTGGAATGAACCACCAATTATTCCAGCATATGTTTTACACAGCGGATGCCCTTCCAGCCACAACCCATTACCAGGAAACACCCATACACACTCATTCACACATACACTACGGCCAGTTTAGTTCATCCAGAGAACATGTAACTGACCCAGCCGGGACTCAAAGCAGTGACCTTCTTGCAGTGA

Associated Phenotype:

Not determined