c1qtnf3

Ensembl ID:
ENSDARG00000057435
ZFIN ID:
ZDB-GENE-050522-484
Description:
alpha-methylacyl-CoA racemase [Source:RefSeq peptide;Acc:NP_001018462]
Human Orthologue:
AMACR
Human Description:
alpha-methylacyl-CoA racemase [Source:HGNC Symbol;Acc:451]
Mouse Orthologue:
Amacr
Mouse Description:
alpha-methylacyl-CoA racemase Gene [Source:MGI Symbol;Acc:MGI:1098273]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa18251 Nonsense Available for shipment Available now
sa7955 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa18251
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080110 Nonsense 104 382 3 6
Genomic Location:
Chromosome 21 (position 18250341)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATGGGATTAGGTCCTGAAGACTTAATAAAAGAGAACCCCCGCCTGATCTA[C/A]GCACGTCTCACTGGTTAYGGTCAGAGCGGATCCTWTGCMAAGGCTGCCGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7955
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080110 Nonsense 273 382 6 6
Genomic Location:
Chromosome 21 (position 18268919)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCTCACAAATGAGCRTTWCTGATTGGCCGCAGCTCAGGSAGACTTTYACA[C/T]AGGTGTTTGCCACMAAAACACAAGCASAATGGGGTCAGATCTTCGACGGG
Associated Phenotype:
Not determined

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/rsiknatd