abcf2

Ensembl ID:
ENSDARG00000038785
ZFIN ID:
ZDB-GENE-030131-8714
Description:
ATP-binding cassette, sub-family F (GCN20), member 2 [Source:RefSeq peptide;Acc:NP_958472]
Human Orthologue:
ABCF2
Human Description:
ATP-binding cassette, sub-family F (GCN20), member 2 [Source:HGNC Symbol;Acc:71]
Mouse Orthologue:
Abcf2
Mouse Description:
ATP-binding cassette, sub-family F (GCN20), member 2 Gene [Source:MGI Symbol;Acc:MGI:1351657]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa5148 Nonsense Mutation detected in F1 DNA During 2016
sa5147 Essential Splice Site Mutation detected in F1 DNA During 2016
sa39862 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa5148
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056640 Nonsense 247 613 6 15
Genomic Location:
Chromosome 2 (position 32226273)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGTTRRTTTTTCTGTAATCTTCAGGGCACTGTTCCTCAAACCCTTCATGT[T/A]GCTTTTGGATGAACCAACAAACCACCTGGACTTGGACGCCTGTGTGTGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa5147
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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056640 Essential Splice Site 406 613 10 15
Genomic Location:
Chromosome 2 (position 32225073)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCCTGTGATTATGGTTCAGAATGTCAGCTTCAGGTATTCGGAAAATACGG[T/C]ACGCAGTCTCATTGAGTCTCTTGTACCATGTTTTACTCGTCTCTGTCCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39862
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056640 Nonsense 575 613 14 15
Genomic Location:
Chromosome 2 (position 32224074)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATTTTGAGGGTGGAATGATGCTGGTCAGCCACGACTTTAGGCTAATTCAG[C/T]AGGTAATGTAATTCTCCTGTTTGTCACATTTAGATGATCTGTGTAAGAAG
Associated Phenotype:
Not determined

GWAS

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

  • Bone mineral density: Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (View Study)
  • IgG glycosylation: Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (View Study)

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

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

Short-link