ZMP

GCH1

Ensembl ID:

ENSDARG00000070453

Description:

GTP cyclohydrolase 1 [Source:HGNC Symbol;Acc:4193]

Human Orthologue:

GCH1

Human Description:

GTP cyclohydrolase 1 [Source:HGNC Symbol;Acc:4193]

Mouse Orthologue:

Gch1

Mouse Description:

GTP cyclohydrolase 1 Gene [Source:MGI Symbol;Acc:MGI:95675]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa15766	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa15766

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000103405	Essential Splice Site	116	251	1	6

Genomic Location (Zv9):

Chromosome 17 (position 14990034)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	15140862
GRCz11	17	15148795

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GCGACAGCCATGCAGTTCTTCACCAAGGGATACCAGGAGAAAATCATCGG[T/C]GAGTTKTATGAWTGTGTGWCAACTGTTYAGAAGTGTTTATTTAACAMGCG

Long Flanking Sequence:

CACGGATTACCCAATGTTTATAAAACCCACCGGCTTCCCCTCAGAGAGCGCTGAGTTTGACAGGAGTATAACAACATTCGAACTTCACTCAAAAGTTTGTTCTCGACACGGATAGAAGCGAAATAGTGACTTACAGCACACGTCTAGGCAATTATGGAGCGCTCCAAACAGAAACCGGTGAATCAAAGCGAAAAAGAAACTGACGGAGCGATCAACGGACACTTTGATGGCCGGGTGAAGATGCCCGGATGGAAAGCTGGAAGTGCCTCCGGGGACCCGGGCAGTGTGCCGACCTCCAGCGTGATGGAGAGCTGGCGAGAAGAGCGCACCCGGAGCCTGGAGGACAACGAGATGAGCCTGCCGAGCATCGCCGCGGCTTACACCACTATTCTTCGGGGTCTCGGGGAGGATCCGCAGCGCCAGGGGCTCCTCAAAACTCCCTGGAGAGCCGCGACAGCCATGCAGTTCTTCACCAAGGGATACCAGGAGAAAATCATCGG[T/C]GAGTTGTATGATTGTGTGACAACTGTTCAGAAGTGTTTATTTAACACGCGATAGAAGTTACAGTTGGCAAATTATTAGCCCCCTCTTTTCTCTCCAATTTTTGTTTAACGGAGATATTTCATGATAGTTTTAACAACAGTGCATAATATTTTACTTAATATTTTTAAAGACACTAGTATTCAGCTGAAAGTGCAATTTAAAGGCTTAACTGGGTTAATTAGGCAAGTTTGGGTAATTAGAATAACTTTGGATTGTTCTGTAGACATTTGGGGAAAAATGCCTTTTTGAAATAATATATTGATATATTGGGTTATCTATTGACCTTAAAAAAATATATATAATAATTTAAATAAATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTATAAGACTTTATAAAATATAAGACTTTCTCTTTTATAAAAAAAAGACTTTCTCCAGACGAAAAATAGGAAATACTGTGAAAA

Associated Phenotype:

Not determined