rnf14

Ensembl ID:
ENSDARG00000043905
ZFIN ID:
ZDB-GENE-040625-65
Description:
ring finger protein 14 [Source:RefSeq peptide;Acc:NP_001002087]
Human Orthologue:
RNF14
Human Description:
ring finger protein 14 [Source:HGNC Symbol;Acc:10058]
Mouse Orthologue:
Rnf14
Mouse Description:
ring finger protein 14 Gene [Source:MGI Symbol;Acc:MGI:1929668]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa17780 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa17780
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000010942 Essential Splice Site 51 459 2 8
ENSDART00000139343 Essential Splice Site 51 240 2 4
Genomic Location:
Chromosome 21 (position 40533819)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATTCATCTGTGCYTAGAGCTTCCACCTAACTTCAAGCTGCTAGTCAAGGG[T/C]GAGACAGWAGCMATGTTTCCATYCAAAAATGCGAATGAAMTTTATGSGCA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/w56q5dm8