si:dkey-221h15.4

Ensembl ID:
ENSDARG00000041873
ZFIN ID:
ZDB-GENE-041014-340
Description:
Novel protein similar to vetebrate short-chain dehydrogenase/reductase 9 (SCDR9) [Source:UniProtKB/T
Human Orthologue:
SDR16C5
Human Description:
short chain dehydrogenase/reductase family 16C, member 5 [Source:HGNC Symbol;Acc:30311]
Mouse Orthologues:
Sdr16c5, Sdr16c6
Mouse Descriptions:
short chain dehydrogenase/reductase family 16C, member 5 Gene [Source:MGI Symbol;Acc:MGI:2668443]
short chain dehydrogenase/reductase family 16C, member 6 Gene [Source:MGI Symbol;Acc:MGI:2685269]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa15071 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa15071
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000061358 Essential Splice Site 161 350 2 6
ENSDART00000136896 Essential Splice Site 161 315 2 6
Genomic Location (Zv9):
Chromosome 20 (position 38858193)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 38930605
GRCz11 20 38833484
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAGTCTGGTRGACCGGACACTACGKGTCAATGCTGCTGCTCATTTCTGGG[T/A]AAAAATAAATAAATAAAANTCNNNNNNNNNNNNCGGTATAAATTCTTTATT
Associated Phenotype:
Not determined

GWAS

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

  • Height: Hundreds of variants clustered in genomic loci and biological pathways affect human height. (View Study)

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

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