FANCA

Ensembl ID:
ENSDARG00000070216
Description:
Fanconi anemia, complementation group A [Source:HGNC Symbol;Acc:3582]
Human Orthologue:
FANCA
Human Description:
Fanconi anemia, complementation group A [Source:HGNC Symbol;Acc:3582]
Mouse Orthologue:
Fanca
Mouse Description:
Fanconi anemia, complementation group A Gene [Source:MGI Symbol;Acc:MGI:1341823]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa38149 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa38149
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:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023162 Essential Splice Site 1128 1325 34 41
Genomic Location (Zv9):
Chromosome 25 (position 38467626)
Other Location(s):
Assembly Chromosome Position
GRCz10 KN150550.1 12419
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGCCTGATCAGCTGCAGATGCTGGAGGACACACACCGCTGGAGCTCACGG[T/C]ACAACACACACACACACACACACACACACACACACACACACACACACTCA
Associated Phenotype:
Not determined

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