si:dkey-14k23.2

Ensembl ID:
ENSDARG00000075813
ZFIN ID:
ZDB-GENE-091204-62
Human Orthologue:
ASPHD1
Human Description:
aspartate beta-hydroxylase domain containing 1 [Source:HGNC Symbol;Acc:27380]
Mouse Orthologue:
Asphd1
Mouse Description:
aspartate beta-hydroxylase domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:2685014]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa9637 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa9637
Current Status:
Available for shipment
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Availability:
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Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111983 Essential Splice Site 319 354 4 5
ENSDART00000141752 Essential Splice Site 319 354 6 7
Genomic Location (Zv9):
Chromosome 3 (position 14886946)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 15132552
KASP Assay ID:
2259-3174.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
YACTKCCTCCTTGTGGAYGACTCTTTYCTGCACACCATCTCACACAACGG[T/A]CAGAAAACTACTCCACAAACCCCTAMTGCTYATAACATGCTGANNNNNAT
Associated Phenotype:
Not determined

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