ZMP

zgc:162420

Ensembl ID:

ENSDARG00000071062

ZFIN IDs:

ZDB-GENE-070410-80, ZDB-GENE-070410-80

Description:

Hermansky-Pudlak syndrome 5 [Source:RefSeq peptide;Acc:NP_001083008]

Human Orthologue:

HPS5

Human Description:

Hermansky-Pudlak syndrome 5 [Source:HGNC Symbol;Acc:17022]

Mouse Orthologue:

Hps5

Mouse Description:

Hermansky-Pudlak syndrome 5 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:2180307]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa24589	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa24589

Status:

Available for shipment
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Availability:

Order Allele From ZIRC

Mutation:

T > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000104832	None	None	187	None	13
ENSDART00000104835	Essential Splice Site	199	1174	5	23

Genomic Location (Zv9):

Chromosome 25 (position 3150112)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	25	3057671
GRCz11	25	3183415

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGGTGGGAAGGTGTCCTGCGTCCGGGCTGGGTCATCTAAACTCGGCAAGG[T/A]ACAAAAAGTCATGTAGATGATACAATTACAAACTTGGGGTTGTTGGATTA

Long Flanking Sequence:

ATATCCTTTTATTTTGTATACGGTGTAAATGCACACAGATCATTGTTGTAAAACAAATATATTTGCAAAGTGTCGATGAAAATAAAAAAAATATGGCAAAAACAATAAAAAGTGTAAACTAAAATCCCTTGTTTGTTTTTTTTTTCATCTTTTCCAGGAAGGCTCCATCACGCAGGTCTCCTGCTGCCCTCATGATGAGGACTTCATCGCTGTGGCCACCAGGTATTCCTCTTAATCCTTCATGTACATGTTCTCCAGGAGTCTGTGTTCTCCAGTCTGGACTCTTCTGTTGTGTGTTTTCCTTAGTCAGGGTTTGGTGGTGGTGTGGGAGCTTCATCTGGAGCGCCGTGGACGTCCGGAACGCGCCTCTGTGTCTTGGGAGCACCGTGGAGTGACCGTAACATCCCTGTGCTGGGACACCGTGGCCCTCCGGGTGTTTGCTGGAGATATGGGTGGGAAGGTGTCCTGCGTCCGGGCTGGGTCATCTAAACTCGGCAAGG[T/A]ACAAAAAGTCATGTAGATGATACAATTACAAACTTGGGGTTGTTGGATTATTCAATGTTTTTTTTTTGTACAATATATTTATTACTTTTTGTCAATTTGCATATCACAACAGATTACACAATTACAGAATAATAATCATGAAGGCACAGCAAACTTTTCACCCCCCATTCTCCCTCCCAACAACCCATTCCCCTAAAAAAAGAAAAAAAATAATTAAATAAAAATAAATAAACAAACAAATAAATAAATTTAATAATAATAAAAAAATAATAAAAAAGGGAATTTGTTTAAATCAGGTAGAGAGTGTTTCCTGAGTCTGTTTAGACCATGAGACTTCCCATATTCCTAAGCTTGTTCTTGTTGTAGCAGACTGTCAACATTTACATTGTACTTTAGGAAGTTATTAAAAGGTCTCCAGATATCTTCAAGCACATTTAGTTTCTTTTTGACAATGTATGTGATCTTTTCCATTGACATATGATTCAATGTTTTTTAAAATG

Associated Phenotype:

Not determined