fancl

Ensembl ID:
ENSDARG00000007885
ZFIN ID:
ZDB-GENE-040426-1045
Description:
E3 ubiquitin-protein ligase FANCL [Source:RefSeq peptide;Acc:NP_998147]
Human Orthologue:
FANCL
Human Description:
Fanconi anemia, complementation group L [Source:HGNC Symbol;Acc:20748]
Mouse Orthologue:
Fancl
Mouse Description:
Fanconi anemia, complementation group L Gene [Source:MGI Symbol;Acc:MGI:1914280]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa9453 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa9453
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020946 Nonsense 295 371 11 14

The following transcripts of ENSDARG00000007885 do not overlap with this mutation:

Genomic Location:
Chromosome 13 (position 26999504)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGAATATGAAAGATGTGTTGGAGATTGAATTTCCATCGCCTACCACCCAC[G/T]AAAAATCTGTACGTTGCATATTTTCGTCTCATAGACTGCCACTTACTATT
Associated Phenotype:
Not determined

GWAS

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

  • Body mass index: Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (View Study)

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

Register

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