tmem56b

Ensembl ID:
ENSDARG00000043595
ZFIN ID:
ZDB-GENE-041010-90
Description:
Transmembrane protein 56-B [Source:UniProtKB/Swiss-Prot;Acc:Q5XIY2]
Human Orthologue:
TMEM56
Human Description:
transmembrane protein 56 [Source:HGNC Symbol;Acc:26477]
Mouse Orthologue:
Tmem56
Mouse Description:
transmembrane protein 56 Gene [Source:MGI Symbol;Acc:MGI:1923195]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa19959 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa19959
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 2014.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000064020 Nonsense 232 264 7 8
ENSDART00000127395 Nonsense 232 264 6 6
ENSDART00000136332 Nonsense 232 264 7 7
Genomic Location:
Chromosome 3 (position 13655422)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGGATCATATCCTGCGTCTGTTTGGATATCCTAAATATAATCTGGATGTA[C/A]AAAATCGCTCGCGGCTGCTACAAGGTCATAACCGGCAAGCTAAAAGGGCG
Associated Phenotype:
Not determined

GWAS

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

  • Stearic acid (18:0) plasma levels: Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. (View Study)

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

Register

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* quick link - http://q.sanger.ac.uk/ldhxb2xm