fancm

Ensembl ID:
ENSDARG00000077800
ZFIN ID:
ZDB-GENE-090929-1
Description:
Fanconi anemia, complementation group M [Source:RefSeq peptide;Acc:NP_001107132]
Human Orthologue:
FANCM
Human Description:
Fanconi anemia, complementation group M [Source:HGNC Symbol;Acc:23168]
Mouse Orthologue:
Fancm
Mouse Description:
Fanconi anemia, complementation group M Gene [Source:MGI Symbol;Acc:MGI:2442306]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa24767 Nonsense Available for shipment Available now
sa44432 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa24767
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052772 Nonsense 274 693 7 15
Genomic Location (Zv9):
Chromosome Zv9_NA92 (position 5934)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 1465335
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATGAAGATGGAGATGTTTCCTCAGATGAAGATGATGGAGACGAGCAGAAC[C/T]AATCACTGCAGGGCTTCGTGGTCAACAACACACAGTGCTCGCAGGGGCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44432
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 2016.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000052772 Essential Splice Site 459 693 9 15
Genomic Location (Zv9):
Chromosome Zv9_NA92 (position 11662)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 1471063
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGATCAGGCAGAGCTGTCAGAAGAGCTGGACTTCCAGACCCACAAACAGG[T/G]GAGGACTTTTAATGCCATAACAGAGTTGACGGTAGCGGAGTTGCAATAGG
Associated Phenotype:
Not determined

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