Product Details

SNP ID
rs183548379
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:75783581 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTGTTCTGGCCAGTTCTGTGGTC[A/G]CTTTCTGTAGAGCCTGGCCATGTAC
Phenotype
MIM: 300760
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MAGEE2 PubMed Links

Gene Details

Gene
MAGEE2
Gene Name
MAGE family member E2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138703.4 1664 Nonsense Mutation CGA,TGA R491* NP_619648.1

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