ZMP

LOC560126

Ensembl ID:

ENSDARG00000030156

Human Orthologue:

NAGLU

Human Description:

N-acetylglucosaminidase, alpha [Source:HGNC Symbol;Acc:7632]

Mouse Orthologue:

Naglu

Mouse Description:

alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) Gene [Source:MGI Symbol;Acc:MGI:1351641]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa13573	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa13573

Status:

Available for shipment
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Availability:

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Mutation:

G > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000048046	Nonsense	154	757	2	7

Genomic Location (Zv9):

Chromosome 24 (position 37809055)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	24	36423971
GRCz11	24	36312043

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TAGGTTCAGGTACTATCAGAACGTGTGTACYGCCAGTTATTCCTCTGTGT[G/A]GTGGGATTGGCCAAGATGGCAAAGGGAGATCGATTGGATGGCGCTGAATG

Long Flanking Sequence:

TTTACCAAAGAAATCCTCCATGTCTTTTCTGTTTCACATATTTTTTATACATTTCTGCAAGCATCTCTACTTTCTGAACAGTTGTTTTATGTGTATTTCAGAGTTCTCGTCTAGATTCAGGACAGCCCCCACTGTGTTGTGTAAAAAAACGCAGCATTGTTGATACTTCTCTCCGCCATTGTTCATGCTAACTCTATGTAGTAGCCGAACCTTACTTTTGTTTCTTGTTTGTCTTGTTAGTTCCGCATGAGCGGCTCTTTACTGTGTCACTCTCAGAGACGGTGGCGAACACTGAATTCCTCTCAGTGTGAAAATTACATTAGTAATGCGGTCAAACACAAAACACTGAAGAATGTTTAGTGCCAAATTCGTCACAAGTAGAAGATGGCAAATGGTGCAAAATCTGGGAAGAAAGCTGTTGTGGTAATTTCAGTTATCGCTGTGTTTGTTTAGGTTCAGGTACTATCAGAACGTGTGTACTGCCAGTTATTCCTCTGTGT[G/A]GTGGGATTGGCCAAGATGGCAAAGGGAGATCGATTGGATGGCGCTGAATGGAATCAATCTTCCTCTAGCGTTCACTGGACAGGAGGTGCTTTGGCAAGAGGTGAGTGTAAGGGGTCTAAATTGTCATGATCCATTGTGATATCAATACTTTATGCCAGTGATATGATATTTGTCGATACTTCAAAGCAATTCTTCGATACAGTTCGATTCAGTAGAATATCGATCGGTATCGATCAGTGTTACAGGAAAGTTACTTTTGAAAGTAATCCATTACAACATTGAGTTACTCCCCAAAGAAGTAACTAGTTGTGTTACTTAGTTACTTTTTATGGTAAGTAACACGTTATGTTACTTTTGCGTTGACTATATATATTGTGTTTTATGTTTATCAGATTTGTTCCTGTTGTACTGTAGGTTTACCTGTCTCTCGGTCTGAACCAGACTGAGTTGGACCGCTTCTTCTCAGGTCCAGCTTTTCTGGCGTGGAACCGAATGGGAAA

Associated Phenotype:

Not determined