ZMP

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 are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa38149	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa38149

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

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
GRCz11	25	37457944
GRCz11	KN150550.1	12419

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGCCTGATCAGCTGCAGATGCTGGAGGACACACACCGCTGGAGCTCACGG[T/C]ACAACACACACACACACACACACACACACACACACACACACACACACTCA

Long Flanking Sequence:

NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNTTCAGCACTCGGTGTCCTCTGCTGCTCCTGTCCGCCATGGTAACACACCCCTCATCTGCATGTGCTGTCTGGATTATGGCTTAACTCTGCCTAACGGGGACGCCAAGGCCAGATACACTTAGCAGATGCAGATAAACCTGCGCGTCTGTTTATTACTCTGCTGTACCTGAGCACTGACACAATAACCGTGTGTTCTGAGCAGTGAAACACACACATTGAACGCTGTGTCTGTGTGTGTCTGTGTGTGTGTGTGTGTGTCTGTCTGTGTGTGTGTGTGTCTGTCTGTGTGTGTGTAGCGCTGGTGGCCGCGTGTGTCCTCTGTGCTGGTGTGTCAGTGGAGGCGTCTCACCGCTGGAGAACCACTGCCTGATCAGCTGCAGATGCTGGAGGACACACACCGCTGGAGCTCACGG[T/C]ACAACACACACACACACACACACACACACACACACACACACACACACTCATGCACACCACTGGAGCTCACGGTACAACACACACAAACAAAACCTGGTGTGTGTGTGTGTGTGCAGTGTGTGTGGCGGTCTGTCCTCCTCGGCTCCAGCGGCTCCATCATGGCTGCTGGCTGCGGCTCTACAGGCTTCACTGCAGCACTCGGACCCCACAGCGGCTCTCGCTCAGCTCGACCACACACACACACAGGTGAGTCTGTCAGGTGATACGTGCACACACACACACACACGCTGAGGTGGGTCTGTCAGTTGACCAATCGGCAATCATCTCTCTGCAGGTGCTGCTCTACCTGTTCCTCTACAGTATAATAGAGCTGATCTCTGCACACCTCAGCCAACAGGTAACACACACACACACACACACACACACAGAGCCTCAGTGATCATGCTGCTGTAGTGTTGATGTGTGTGTGTGTGTGTGTGTGTGTTTGCAGGAGTGTGTGG

Associated Phenotype:

Not determined