bhmt

Ensembl ID:
ENSDARG00000013430
ZFIN ID:
ZDB-GENE-030131-947
Description:
Betaine--homocysteine S-methyltransferase 1 [Source:UniProtKB/Swiss-Prot;Acc:Q32LQ4]
Human Orthologues:
BHMT, BHMT2
Human Descriptions:
betaine--homocysteine S-methyltransferase 2 [Source:HGNC Symbol;Acc:1048]
betaine--homocysteine S-methyltransferase [Source:HGNC Symbol;Acc:1047]
Mouse Orthologues:
Bhmt, Bhmt-ps1, Bhmt2
Mouse Descriptions:
betaine-homocysteine methyltransferase 2 Gene [Source:MGI Symbol;Acc:MGI:1891379]
betaine-homocysteine methyltransferase Gene [Source:MGI Symbol;Acc:MGI:1339972]
betaine-homocysteine methyltransferase, pseudogene 1 Pseudogene [Source:MGI Symbol;Acc:MGI:1888909]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa17114 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa17114
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000040422 Nonsense 347 400 8 8
Genomic Location:
Chromosome 21 (position 286909)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ATTCTGATNNNNGTGTGTGTGTNNNNNNNNNNTGTGCAGGGCTCGCCGTGACTACT[G/A]GGAGAAGCTGAAGCCGGCGTCTGGTCGTCCAYTCTGCCCCTCCATGYCCA
Associated Phenotype:
Not determined

GWAS

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

  • Metabolite levels: Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes. (View Study)

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

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

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