abca4a

Ensembl ID:
ENSDARG00000057169
ZFIN ID:
ZDB-GENE-050517-3
Description:
ATP-binding cassette, sub-family A (ABC1), member 4a [Source:RefSeq peptide;Acc:NP_001002206]
Human Orthologue:
ABCA4
Human Description:
ATP-binding cassette, sub-family A (ABC1), member 4 [Source:HGNC Symbol;Acc:34]
Mouse Orthologue:
Abca4
Mouse Description:
ATP-binding cassette, sub-family A (ABC1), member 4 Gene [Source:MGI Symbol;Acc:MGI:109424]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa11328 Essential Splice Site Available for shipment Available now
sa39458 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa11328
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079770 Essential Splice Site None 280 1 8
ENSDART00000136772   None 2277 None 48
ENSDART00000147063 Essential Splice Site None 300 1 7
Genomic Location (Zv9):
Chromosome 24 (position 29483657)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 28481973
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGCCATGAGCTTCAGCAGAAGCAAGCACAAAAGAGCCTTCTTCTCCTGAG[G/A]TGAGTCTTGCCACTGTTACMATTTTTACGWGTGTCTTTTAGTYGTTTCCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39458
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079770   None 280 None 8
ENSDART00000136772 Nonsense 2192 2277 47 48
ENSDART00000147063   None 300 None 7
Genomic Location (Zv9):
Chromosome 24 (position 29565059)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 28563375
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCAGATTTGAACCCAGCCGAAGCGTTCATGGAGAGCACATTTCCTGGCTG[C/A]ATTCAGAGGGAGAAACACTATAATACTCTACAGTACGAGATTGCTTCTTC
Associated Phenotype:
Not determined

GWAS

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

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

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