ZMP

GAN

Ensembl ID:

ENSDARG00000087650

Description:

gigaxonin [Source:HGNC Symbol;Acc:4137]

Human Orthologue:

GAN

Human Description:

gigaxonin [Source:HGNC Symbol;Acc:4137]

Mouse Orthologue:

Gan

Mouse Description:

giant axonal neuropathy Gene [Source:MGI Symbol;Acc:MGI:1890619]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa45632	Nonsense	Mutation detected in F1 DNA	Not yet available
sa12897	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa45632

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000122384	Nonsense	315	468	5	8

Genomic Location (Zv9):

Chromosome 18 (position 12551983)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	13118484
GRCz11	18	13087202

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCAGTGGCGCGCTGCATGTGTCCGCTTTACGATCGCAACAGGCAGCTGTG[G/A]ATTGACCTGATGCCAATGAAGGAGAGAAGGGTTGGCCATGGGGTTGTGTC

Long Flanking Sequence:

GCAGATCAAGTACAGATGTTTACTCTAGCTTTAAATAGAGATTCTCAGATGTACTTTGCAAATATCCTGATCAGTTTTTCAGATTTTTAAAACATGTATAACATGAGCTATAATGGAATGTGCCCAAAGTTGTATCTGTACAGTTTTATTTAATAATGAAAACATGACAGAATGAAGCAAGTGTGCAGTGAATGGGCAATATCTTTAGTTTTTTCTTGGTTCTCTGTGCTTCATCTCTGGCCTTTTAATGCTCCACTTTCACACTTCATACTATAAGACTATTGCAGTGCAGTGCAGTTTGGAAGCCCAGAACAGAGATCAGCTGAATTAAATAAAATAAAATTGGCACATTTGGAGCAGAAACCATTTGATTTCATTGTGGATTTCTGGACTACATTATGCATAAAACACTAAACTTTTTGTTTCCTTTGCAGCTCTCGGAAGCCCACGGCAGTGGCGCGCTGCATGTGTCCGCTTTACGATCGCAACAGGCAGCTGTG[G/A]ATTGACCTGATGCCAATGAAGGAGAGAAGGGTTGGCCATGGGGTTGTGTCTGCAGGTTTGTACTTGCTCAGTGTTTAAATACTACATTTGTGAGGGAATATTTCTGTCGTTGATCAAGGTAGTTCTGTTAATTATAATTTTTAATACAATTGGAATAAATTCTACATCTTCCATTCATACATATTCTTTGTCTTCAAAGTTTGGAGTACGTTTTTTTTTTTTTTTTTGAAAGGAAAAATAAGCCTTATAAAATGTATAAAGTTTTAGATTTTCATTTTAAAATAAATTTCAAAAATGTAATGTATAACAAATGTTTCCAATAAGAAGAAATATTGCCATCATACTGCAAAATAAATGCCTAAAACAATTGAAATTGTGCTAATATTTCTCAATAATTTCTCCATCCTAATGTATTAACACATGCATGTTTAAATTCGTTATATGCCTTCCTAAGTATCTTCCAAAACTCCATTGAAACAGTTAGTGGATTTAAATAGATA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa12897

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:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000122384	Essential Splice Site	422	468	7	8

Genomic Location (Zv9):

Chromosome 18 (position 12548746)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	13123221
GRCz11	18	13091939

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CGCATTGCAATGTCTGGAGAATGCTGCCAAAGATGACCACAGTACGCAAG[G/A]TGAGATTTAGATTYAGTTTTGTATGAATTTCAAACACTTTTTCTCTCATG

Long Flanking Sequence:

ATAACGATAACAAACCTTAATATTATATAAATTCTATTAATTAAATAAACAAATTTAAGAGCTTTCCTTTAACCATATCGACCTAGAAAATAGCAACTTTTCATTTTCCGTCGGTCTTGGGCACAATACAACTTCAGAAGAGTTTAAACTGTTCATCATTAAGGTATTAAAGTCCATGAGGCCGTTTCCAAAAAAACTGGAGTGTTACTTTTACACACAGAAAAGTAATAATATAATTTATTTTTGACTGCTAAATGGCTACCATTGCTGCTAGGATAGCACGATGCACTTCTTAATACGAACCACCAGGTGTCAGTGTTATATTGTATTTTCTTGTGTCTGCACAGGCCAGACAGCATTTTGGCATAGCGGAGCTGGACGGGATGATCTATGTGTTGGGTGGGGAAAATGAGGACACTGAAGTTCTCCTCACGATGGAGGTGTTTGACCCGCATTGCAATGTCTGGAGAATGCTGCCAAAGATGACCACAGTACGCAAG[G/A]TGAGATTTAGATTCAGTTTTGTATGAATTTCAAACACTTTTTCTCTCATGCTTAAAATAATAAATATCAAGCTTCTCTTAATGTTGTGAATGTATTACTCAGTTTGGTAGCTGTGCCACCATGAAGAAGAGACTGTATGTGATGGGCGGAGGATCATATGGGAAGATCTACGATTCTGTGGAGTGCTACGACCCCAAAACCCAACAGTGGACAACAGTCTGCCCTCTTAAAGAGAGGAGGTAATGTGTGTTACCGATGTTCATTCATATTGCAGCAAGGTTCCATTCAAAGCAGCTTATGAAAAAACTCACAGCTTGTATGTAGCCAGTGTAGTATTGCAATAATTCTGTTCGCAAAAGAGTGGAGGAACTATGACATCACCTTTTAGGCTAATCGGCTGCTAGCATAAAACTGGTTCCCTCTATAAAATCCCTATAGGATTTTCCCATATGCTTTCCGAAGTTTGTAAATAATGAGCTCTGTGTTTAAACACTGTTCAT

Associated Phenotype:

Not determined