A7MC17_DANRE

Ensembl ID:
ENSDARG00000062182
Description:
LOC100001772 protein [Source:UniProtKB/TrEMBL;Acc:A7MC17]
Human Orthologue:
SLC22A7
Human Description:
solute carrier family 22 (organic anion transporter), member 7 [Source:HGNC Symbol;Acc:10971]
Mouse Orthologue:
Slc22a7
Mouse Description:
solute carrier family 22 (organic anion transporter), member 7 Gene [Source:MGI Symbol;Acc:MGI:18595

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa42917 Nonsense Mutation detected in F1 DNA During 2016
sa8561 Essential Splice Site Mutation detected in F1 DNA During 2016
sa16596 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa42917
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
ENSDART00000078873 Nonsense 300 555 5 10
Genomic Location (Zv9):
Chromosome 17 (position 21819226)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 21969375
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCTGCTCGATGGCTGATAGCCAATGGAGACGTGGAAAAAGCTCATTATTA[T/A]CTGCATAAATGTGCCGTCATGAACCGTAAAGCTGAAGTTACATCAAGAAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8561
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
ENSDART00000078873 Essential Splice Site 428 555 7 10
Genomic Location (Zv9):
Chromosome 17 (position 21817762)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 21967911
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAACTATTTGCAGGAATCAGCCTCATGATTAACATATTCATACCCAAAGG[T/G]GAGTGTGGAAATGTTAATTCTACATTTCAAACCAACCGGTTTGCAGTGYA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16596
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000078873 Essential Splice Site 464 555 9 10
Genomic Location (Zv9):
Chromosome 17 (position 21814919)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 21965068
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATCTGTAATTGCACACTACACGCTAAATAAACACTTTGATTGGATCCKCT[A/T]GGCAAAATGGCATGGGCTATAATTCCTTCCTGGCTCGTCTGGGTGTTTCT
Associated Phenotype:
Not determined

GWAS

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

  • Urate levels: Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. (View Study)

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

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