ZMP

si:dkey-19n13.4

Ensembl ID:

ZFIN ID:

Human Orthologues:

GBA, GBAP1

Human Descriptions:

glucosidase, beta, acid [Source:HGNC Symbol;Acc:4177]
glucosidase, beta, acid pseudogene 1 [Source:HGNC Symbol;Acc:4178]

Mouse Orthologue:

Gba

Mouse Description:

glucosidase, beta, acid Gene [Source:MGI Symbol;Acc:MGI:95665]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa1621	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa1621

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:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000113093	Essential Splice Site	178	518	4	10

The following transcripts of ENSDARG00000076058 do not overlap with this mutation:

ENSDART00000140052

Genomic Location (Zv9):

Chromosome 16 (position 15985427)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	16	14330319
GRCz11	16	14220439

KASP Assay ID:

554-1562.1 (used for ordering genotyping assays)

KASP Sequence:

ACTACGATCTCCAGAACTTCACCCTGGCCAAAGAGGATGTTCACATGAAG[G/A]TAGCATACACAAACAAAAACACACCTTRCTACAAATAGCGGTCTGCAGTA

Long Flanking Sequence:

GTGAGAATAATACATTTGTCGACCAGTTGTGAGTTTTCTGTGTACATATTATACATTTGTTAAATAAATCTAATTATACATAATTTTCCAGCCAAATGCTAAACGCTTTTTCTCTCCTTTTCTGAACGCCAGCTCTCAGAATCACTCTGAACCCCAGTCAGAAGTTCCAGCACATTAAGGGATTCGGGGGAGCCATGACGGATGCAGCAGCCATTAATATTTTGTCTCTGTCTTCCGGAGCTCAGGACCAGCTGCTCAGACAGTACTTCTCCACAGATGGTGAGAGCAACAGAGATTGAGCAAGTGGAAATGAAAATGGCCTCGGCTTTCTCAGTTCCGAATGGTGTACATCGCTCTGTTTCACAGGTATAGAGTACCGTTTCGTGAGAGTGCCGGTGGCCAGCTGTGATTTTTCAACTCGACTCTACACGTATGCTGACACTCCAGAAGACTACGATCTCCAGAACTTCACCCTGGCCAAAGAGGATGTTCACATGAAG[G/A]TAGCATACACAAACAAAAACACACCTTACTACAAATAGCGGTCTGCAGTAGTACTCGCTTGAGGGTAAATATTGCGTAAATAGTGATTTGATTTTCATTTTTGAGGGAACTTTCCCTTTAAGTGTTCATGTCAATGCATTAAAAATACAATTTACTCAACATTTTGCTACCTTTCGGGTCAGAATGTATTTTAAAGTAGTTATTGATTTTTACATGTTTTAAATTAATATAATATTTAAATTATCTATATGTGTTATTTACAAAAAAACATACTAGAAAATTACTAGAAAAAAACTTTGTTTTAAAATGGCAAATGTTCGTTTTTATCATTTCATTTTCATTTTGCGTCAAACTTCGCACATCATGCGAAGAATGCAAATTTAAATACAGCAATACAATGCAAAAGTACATTTTGCTTATCGTATTTATTATTCAAAAGAAGGTAATGATTCGCACTCAATTGCTTCATACTGTTTTTATTTGTACTTTTTCTTACATTT

Associated Phenotype:

Normal

Stage	Entity	Quality	Tag
Larval:Day 5 ZFS:0000037	whole organism ZFA:0001094	quality PATO:0000001	normal PATO:0000461