Product Details

SNP ID

rs189110298

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:30218950 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGTCGTTGGTGCAGTTCCTGTTG[C/T]ACAAGTATAAAATAAAAAAGTCCGT

Phenotype

MIM: 300098

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAGEB2 PubMed Links

Gene Details

Gene

MAGEB2

Gene Name

MAGE family member B2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002364.4	513	Missense Mutation	CAC,TAC	H124Y	NP_002355.2
XM_011545512.1	513	Missense Mutation	CAC,TAC	H124Y	XP_011543814.1

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