ENSDARG00000090129

Ensembl ID:
ENSDARG00000090129
Human Orthologues:
MAMDC2, MDGA1, MDGA2
Human Descriptions:
MAM domain containing 2 [Source:HGNC Symbol;Acc:23673]
MAM domain containing glycosylphosphatidylinositol anchor 1 [Source:HGNC Symbol;Acc:19267]
MAM domain containing glycosylphosphatidylinositol anchor 2 [Source:HGNC Symbol;Acc:19835]
Mouse Orthologues:
Mamdc2, Mdga1, Mdga2
Mouse Descriptions:
MAM domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1918988]
MAM domain containing glycosylphosphatidylinositol anchor 1 Gene [Source:MGI Symbol;Acc:MGI:1922012]
MAM domain containing glycosylphosphatidylinositol anchor 2 Gene [Source:MGI Symbol;Acc:MGI:2444706]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa12311 Splice Site, Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa12311
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
G > A
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000126223 Splice Site, Nonsense 142 550 5 14
Genomic Location (Zv9):
Chromosome 2 (position 31290326)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 31591386
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GCTCAGTTACAGTTGATTCAGTATGATKTTTTGATAGAGGCTGTTTGTAG[G/A]TATCGGCTGTCTGCTGGCTCGGCTGATTCACTCTCAGTACATGTTCTTCT
Associated Phenotype:
Not determined

GWAS

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

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

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