ZMP

hps1

Ensembl ID:

ENSDARG00000026170

ZFIN ID:

ZDB-GENE-051113-152

Description:

Hermansky-Pudlak syndrome 1 protein [Source:RefSeq peptide;Acc:NP_001032777]

Human Orthologue:

HPS1

Human Description:

Hermansky-Pudlak syndrome 1 [Source:HGNC Symbol;Acc:5163]

Mouse Orthologue:

Hps1

Mouse Description:

Hermansky-Pudlak syndrome 1 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:2177763]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa17216	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa17216

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

T > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000057047	Essential Splice Site	39	668	None	19
ENSDART00000109822	Essential Splice Site	39	668	None	17
ENSDART00000146112	Essential Splice Site	39	56	None	4

The following transcripts of ENSDARG00000026170 do not overlap with this mutation:

ENSDART00000143506

Genomic Location (Zv9):

Chromosome 13 (position 41306604)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	40568656
GRCz11	13	40694546

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ACAGCGGCTTCAGGAGCAGTATGGARTCTCCCAGGAGGAAGGAGAAGGAG[T/A]ATGNNTTTTTTTTTGCTCTAGATTATCAAATAGTGCTGTTTGRCTTTCAGAC

Long Flanking Sequence:

GTTTCAGCATCTTTGGTGTACCTCCTTAAGGAAAACTTATTTGTGTTGTTTAATTCTACTAAATGAAAATTCTGCCACAATTTACTCTCCCTTTAGAAGATCATATGAAAAATGCTGGTTTCTGGGATCCATTGATTTCAACAGTATTTTTCTTTGTCCTGCTATGGAAGTTGATGGGTCCCAGCAACCAGTTTTCTTTGTAAAATATCTTCTTTTGTTTCCTACAGATGTAAGAAACTAATAAAAGTTTAAAAACCGCATGAGGAAGAGTAAATAATGAGTTAATTTACATTTTTGGGCAAACTCGCTTTAGAAGTCCTGCAAAGTCAGTAATGCCTCAAGAAAGCATGTGAACACAATGAATCATTTTTCCTCAGGTAAAATGAAGTGTCTGCTGGTGGCCAATGAGAGCGCAGAGGTTCTGTTCTACTGGACGGACAGCGAGTTCGAACAGCGGCTTCAGGAGCAGTATGGAGTCTCCCAGGAGGAAGGAGAAGGAG[T/A]ATGTTTTTTTTTGCTCTAGATTATCAAATAGTGCTGTTTGACTTTCAGACACATAAAACATAGATATTTTAAGCTACTGTACATAACATTGGGTACTCCGGTAGTTTTTACATAAAACTGTTTGCTTCTTAACGAGGAACAGTATAGCTGGAACTACCTCTCATTCAAGAAGACCCTACTCAATGTTTGTAATGCACAAAACCTCTTACAGTAAAACACATGTTACTGGACTGTCCTGCTTTTAATGGTTCCAGAAGGCTTTTTTTCTTGAATGAATTCTCTTGAGGACATTTGTAGCAAAGTGACACCAGAGAAAATATTAGAATTTTCATCCTCTAATAACACTAAAAATCTTATTTAAGTTATTGTTTTCAGTTGTTTGATGATTTTAATTGTATATTTATTATTGAATTATTCGTGCCATGAAAATAGCCTTGGGTGCTTACATGGCATTAAATAAATGAATAAAATAACATTACCTCTCATTCAAATGCTACACT

Associated Phenotype:

Not determined