Product Details

SNP ID

rs200509545

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:30250854 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAATGCTGATGCACTTCATTCTA[C/T]GTAAGTATAAAATGAGAGAGCCCAT

Phenotype

MIM: 300097 MIM: 300153

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAGEB1 PubMed Links

Gene Details

Gene

MAGEB1

Gene Name

MAGE family member B1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002363.4	524	Missense Mutation	CGT,TGT	R121C	NP_002354.2
NM_177404.2	524	Missense Mutation	CGT,TGT	R121C	NP_796379.1
NM_177415.2	524	Missense Mutation	CGT,TGT	R121C	NP_803134.1

Gene

MAGEB4

Gene Name

MAGE family member B4

There are no transcripts associated with this gene.

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