kat2a

Ensembl ID:
ENSDARG00000006017
ZFIN ID:
ZDB-GENE-080403-11
Description:
PCAF [Source:UniProtKB/TrEMBL;Acc:Q1L672]
Human Orthologue:
KAT2A
Human Description:
K(lysine) acetyltransferase 2A [Source:HGNC Symbol;Acc:4201]
Mouse Orthologue:
Kat2a
Mouse Description:
K(lysine) acetyltransferase 2A Gene [Source:MGI Symbol;Acc:MGI:1343101]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa13154 Nonsense Available for shipment Available now
sa10939 Essential Splice Site Available for shipment Available now
sa19974 Essential Splice Site Mutation detected in F1 DNA During 2014
sa19975 Splice Site, Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa13154
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
ENSDART00000028072 Nonsense 252 800 5 18
Genomic Location:
Chromosome 3 (position 17307587)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTCGGCAGAGGGCTCAGAAAGAGGACGCAGCGGCATACAAAGTCGATTA[T/A]ACTAGRTGCTTGTGTYRCTGTGTTCTATTCTRAATGCACGTTTGTAGGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10939
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028072 Essential Splice Site 254 800 5 18
Genomic Location:
Chromosome 3 (position 17307593)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAGAGGGCTCAGAAAGAGGACGCAGCGGCATACAAAGTCGATTATACTAG[G/A]TGCTTGTGTYRCTGTGTTCTATTCTRAATGCACGTTTGTAGGATGTGYAW
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19974
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
ENSDART00000028072 Essential Splice Site 549 800 11 18
Genomic Location:
Chromosome 3 (position 17315834)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GATTCACAGAGATTGTCTTTTGTGCTGTCACCTCCAATGAACAGGTCAAG[G/A]TAAGTAGATGGAGACTCTGTGAAAGGTAATTGACTGAACAAGAGGGATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19975
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:
A > T
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000028072 Splice Site, Nonsense 686 800 16 18
Genomic Location:
Chromosome 3 (position 17321631)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTGTAGGCTGTGTGTGTCTATTACTCACTCTTAACTTTTCCTCTGCAGT[A/T]AAGAGCTGAAAGATCCAGATCTGCTCTACAACATGCTGAAGAATCTACTG
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/ffalc1od