Product Details

SNP ID

rs34875116

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:23644053 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTGTCACCGGTGTCAGGTTCATC[C/G]TCATCTGTGTCTTCCCACTCACACT

Phenotype

MIM: 605283

Polymorphism

C/G, Transversion 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	3794	Missense Mutation	GAC,GAG	D1230E	NP_061939.3

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