ZMP

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
sa17114	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa17114

Status:

Available for shipment
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Availability:

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Mutation:

G > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000040422	Nonsense	347	400	8	8

Genomic Location (Zv9):

Chromosome 21 (position 286909)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	94697
GRCz11	21	40795

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ATTCTGATNNNNGTGTGTGTGTNNNNNNNNNNTGTGCAGGGCTCGCCGTGACTACT[G/A]GGAGAAGCTGAAGCCGGCGTCTGGTCGTCCAYTCTGCCCCTCCATGYCCA

Long Flanking Sequence:

CCCTGGGTCAGGGCCAGGTGAGAAACCAGACAACAATACAGTCAATACTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAAAGTGTTGACGCATAGTGTTTGTGTCTGATGTGTGTGTGTGTTTATGTATAGTGTGTTTCTGATCTGTGTTTGTGTGTTGTGCATTTTTGATGTGTGTCTGTGTGTTTATGTTATTCTGATATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCGATGTATAGCTTCCGTAATTTTTGTGTGTGTGTAAAAGTGTTGACGCATAGTGTTTGTGTCTGATGTGTGTGTGTGTTTATGTATAGTGTGTTTCTGATCTGTGTTTGTGTGTTGTGCATTTTTGATGTGTGTCTGTGTGTTTATGTTATTCTGATATGTGTGTGTGTGTGTGTTGTGCAGGGCTCGCCGTGACTACT[G/A]GGAGAAGCTGAAGCCGGCGTCTGGTCGTCCACTCTGCCCCTCCATGTCCACTCCAGACGGTTGGGGGGTCACCAGGGGTCACGCGGCCCTCATGCAGCAGAAGGAGGCCACCACGGCGGAGCAGCTGCGGCCACTGTTCCAGCAGGCGGACGCTAAACACTGAGACACACTGAGGAGACCAGAGAATTTACATGATCAACACCTCTGTTTACTGCAGCCGCACACACACACAGACAGAGAGAGCTCTGGAGAAACACACACACACACACCTGCGCCGCTGTTCTCCATGTGCCTGCCCTGATGTGGTGTTGAAGCGGCACAGCTGCATTCCAGATGTTCACAGCACTCCAGTGTTTACATTCTGATGATCAATAAACCATCATCATCAATATCTGTCGATCAGTGTCTGTTATTGATCAATCAGCAGCGAATGTGTGAAGCATTGTCTTTATTAACATAGGGAAGAATTGAGGACGGGTCACTGAGTTATTCGAGAGTAA

Associated Phenotype:

Not determined