akr1b1

Ensembl ID:
ENSDARG00000006215
ZFIN ID:
ZDB-GENE-040625-7
Description:
aldose reductase [Source:RefSeq peptide;Acc:NP_001002048]
Human Orthologues:
AKR1B1, AKR1B10, AKR1B15, AKR1E2
Human Descriptions:
aldo-keto reductase family 1, member B1 (aldose reductase) [Source:HGNC Symbol;Acc:381]
aldo-keto reductase family 1, member B10 (aldose reductase) [Source:HGNC Symbol;Acc:382]
aldo-keto reductase family 1, member B15 [Source:HGNC Symbol;Acc:37281]
aldo-keto reductase family 1, member E2 [Source:HGNC Symbol;Acc:23437]
Mouse Orthologues:
Akr1b10, Akr1b3, Akr1b7, Akr1b8, Akr1e1, Gm6736
Mouse Descriptions:
aldo-keto reductase family 1, member B10 (aldose reductase) Gene [Source:MGI Symbol;Acc:MGI:1915111]
aldo-keto reductase family 1, member B3 (aldose reductase) Gene [Source:MGI Symbol;Acc:MGI:1353494]
aldo-keto reductase family 1, member B7 Gene [Source:MGI Symbol;Acc:MGI:101918]
aldo-keto reductase family 1, member B8 Gene [Source:MGI Symbol;Acc:MGI:107673]
aldo-keto reductase family 1, member E1 Gene [Source:MGI Symbol;Acc:MGI:1914758]
predicted gene 6736 Pseudogene [Source:MGI Symbol;Acc:MGI:3643048]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa16601 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa16601
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
ENSDART00000018261 Essential Splice Site 142 315 4 10
ENSDART00000122523 Essential Splice Site 172 345 5 11
Genomic Location:
Chromosome 4 (position 13968877)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGGATGGCCATGTGATTCCAGACAACAGCAACTTTCTCGAAACATGGGAG[G/A]TAATAAACAGTAGAATAATTGAGATTACAGTAATGATCATGTCAGAATTA
Associated Phenotype:
Not determined

GWAS

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

  • Longevity: Joint influence of small-effect genetic variants on human longevity. (View Study)
  • Neonatal lupus: Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. (View Study)

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

Register

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* quick link - http://q.sanger.ac.uk/gy102hnl