Product Details

SNP ID

rs6614290

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:54809940 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCACCCAGGCCTCATCTACTACTCA[G/T]CTGACTGATACCCAGGTTCTGGCAG

Phenotype

MIM: 300470 MIM: 300662

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MAGED2 PubMed Links

Gene Details

Gene

MAGED2

Gene Name

MAGE family member D2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014599.5	457	Missense Mutation	CAG,CAT	Q88H	NP_055414.2
NM_177433.2	457	Missense Mutation	CAG,CAT	Q88H	NP_803182.1
NM_201222.2	457	Missense Mutation	CAG,CAT	Q88H	NP_957516.1

Gene

SNORA11

Gene Name

small nucleolar RNA, H/ACA box 11

There are no transcripts associated with this gene.

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