fam175a

Ensembl ID:
ENSDARG00000043339
ZFIN ID:
ZDB-GENE-041010-70
Description:
BRCA1-A complex subunit Abraxas [Source:UniProtKB/Swiss-Prot;Acc:Q1LVP6]
Human Orthologue:
FAM175A
Human Description:
family with sequence similarity 175, member A [Source:HGNC Symbol;Acc:25829]
Mouse Orthologue:
Fam175a
Mouse Description:
family with sequence similarity 175, member A Gene [Source:MGI Symbol;Acc:MGI:1917931]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa11677 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa11677
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000063621 Nonsense 190 391 6 9
Genomic Location:
Chromosome 21 (position 18139916)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAACCTTGAACAGCAGGACTACTGGAGRGTGTCTRGCACATGTCCGTCTT[T/A]AGGACAGAGTCAAGCTGTAAATCAACACAGGTACATTCASRAGTTTTACA
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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* quick link - http://q.sanger.ac.uk/9q3kowgm