si:dkey-162f21.5

Ensembl ID:
ENSDARG00000060522
ZFIN ID:
ZDB-GENE-081104-321
Human Orthologues:
AL391868.1, RFK
Human Descriptions:
riboflavin kinase [Source:HGNC Symbol;Acc:30324]
Riboflavin kinase [Source:UniProtKB/Swiss-Prot;Acc:Q969G6]
Mouse Orthologue:
Rfk
Mouse Description:
riboflavin kinase Gene [Source:MGI Symbol;Acc:MGI:1914688]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa27246 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa27246
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:
A > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085371 Essential Splice Site 28 163 2 4
Genomic Location (Zv9):
Chromosome 8 (position 39659281)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 38538084
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCACCCCTAATAGAAAAAAAATACTAATTTAATTTTTCCATTTCTTACTT[A/C]GCAAATTTCCCAGAGTCTGTTGTGGACAGTCTCCCCACTGACATCAGCAC
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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