Product Details

SNP ID
rs181597016
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:23644433 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCCAAACTTGGGCCTGTCTAAAT[A/G]GGATGCCACCAAATTCCCTGTATGG
Phenotype
MIM: 605283
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MAGEL2 PubMed Links

Gene Details

Gene
MAGEL2
Gene Name
MAGE family member L2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019066.4 3414 Missense Mutation CAT,TAT H1104Y NP_061939.3

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