pnp4a

Ensembl ID:
ENSDARG00000057575
ZFIN ID:
ZDB-GENE-040625-83
Description:
purine nucleoside phosphorylase 4a [Source:RefSeq peptide;Acc:NP_001002102]
Human Orthologue:
PNP
Human Description:
purine nucleoside phosphorylase [Source:HGNC Symbol;Acc:7892]
Mouse Orthologues:
Pnp, Pnp2
Mouse Descriptions:
purine-nucleoside phosphorylase 2 Gene [Source:MGI Symbol;Acc:MGI:3712328]
purine-nucleoside phosphorylase Gene [Source:MGI Symbol;Acc:MGI:97365]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa8634 Nonsense Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa8634
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 2017.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029695 Nonsense 274 291 6 6
Genomic Location (Zv9):
Chromosome 11 (position 25230367)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 24059194
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCAATCATGAAGCTGTKTTGGAAGTGAGCAAAATGCGTTCAGAGACGCTK[C/T]AGGCTCTCGTYACRGAGCTCATYAGCCGCATGGACATCAACAACAAYACG
Associated Phenotype:
Not determined

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