ahcyl2

Ensembl ID:
ENSDARG00000039343
ZFIN ID:
ZDB-GENE-040115-5
Description:
putative adenosylhomocysteinase 3 [Source:RefSeq peptide;Acc:NP_958497]
Human Orthologue:
AHCYL2
Human Description:
adenosylhomocysteinase-like 2 [Source:HGNC Symbol;Acc:22204]
Mouse Orthologue:
Ahcyl2
Mouse Description:
S-adenosylhomocysteine hydrolase-like 2 Gene [Source:MGI Symbol;Acc:MGI:1921590]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa8809 Essential Splice Site Mutation detected in F1 DNA During 2014
sa10583 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa8809
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000130453 Essential Splice Site 581 623 15 17
Genomic Location:
Chromosome 4 (position 4901791)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCCCGAGGGCCGCTACAAACAGGACGTCTACCTGCTGCCGAAGAAAATGG[G/A]TGGGATATTTKTTTTNAGAAATACATGCACAGTAAGATGCTTTGTGTAAAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10583
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000130453 Nonsense 584 623 16 17
Genomic Location:
Chromosome 4 (position 4899827)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
MATGATTCTAGATGATGTGAATTTGCTTATGCWTTTTCTRCAGATGAGTA[T/A]GTGGCCAGCCTTCATCTCCCTACATTTGATGCACACCTGACTGAACTGTC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Inflammatory biomarkers: A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/owxdvak5