zgc:110528

Ensembl ID:
ENSDARG00000012051
ZFIN ID:
ZDB-GENE-050320-145
Description:
Protein FAM119A [Source:UniProtKB/Swiss-Prot;Acc:Q5BLD8]
Human Orthologue:
FAM119A
Human Description:
family with sequence similarity 119, member A [Source:HGNC Symbol;Acc:30476]
Mouse Orthologue:
Fam119a
Mouse Description:
family with sequence similarity 119, member A Gene [Source:MGI Symbol;Acc:MGI:1914349]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa16102 Essential Splice Site Available for shipment Available now
sa6698 Nonsense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa16102
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000025198 Essential Splice Site 49 218 2 4
Genomic Location (Zv9):
Chromosome 22 (position 11771219)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 11631387
GRCz11 22 11661069
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TYAGTCAGGACTGGAAGCGATTGGGTGTCGCTGCWGTGGTTTGGGACGCT[G/T]TAAGTTCACACTACCCCAACTTTAANTCCGGATCCAGTTTYGTTTTWAAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6698
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 2018.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000025198 Nonsense 95 218 4 4
Genomic Location (Zv9):
Chromosome 22 (position 11767901)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 11628069
GRCz11 22 11657751
KASP Assay ID:
554-5005.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTKTATCAATAAATATATTTTCTGCAGGAGCCAATGTTACMATCACAGAC[C/T]GWGAGCCTGCGCTGGAATTTCTGACMGCCAATGTACATGAAAACATTCCT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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