cpsf5

Ensembl ID:
ENSDARG00000003153
ZFIN ID:
ZDB-GENE-040426-1316
Description:
Cleavage and polyadenylation specificity factor subunit 5 [Source:UniProtKB/Swiss-Prot;Acc:Q7T3C6]
Human Orthologue:
NUDT21
Human Description:
nudix (nucleoside diphosphate linked moiety X)-type motif 21 [Source:HGNC Symbol;Acc:13870]
Mouse Orthologue:
Nudt21
Mouse Description:
nudix (nucleoside diphosphate linked moiety X)-type motif 21 Gene [Source:MGI Symbol;Acc:MGI:1915469

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa25064 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa25064
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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023721 Nonsense 203 228 6 7
Genomic Location:
Chromosome 18 (position 22509289)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCCGTGCCAAAGAACTACAAACTGGTGGCTGCTCCGTTGTTTGAGCTTTA[T/A]GATAATGCTCCTGGTTATGGCCCAATTATATCCAGTCTTCCACAGCTACT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/f4aa3ri4