Product Details

SNP ID

rs186871647

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:30250720 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCACTGCTGCTGCAGCTGTGTCAT[G/T]TACCGAATCTGACGAAGGTGCCAAA

Phenotype

MIM: 300097 MIM: 300153

Polymorphism

G/T, Transversion 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	390	Missense Mutation	TGT,TTT	C76F	NP_002354.2
NM_177404.2	390	Missense Mutation	TGT,TTT	C76F	NP_796379.1
NM_177415.2	390	Missense Mutation	TGT,TTT	C76F	NP_803134.1

Gene

MAGEB4

Gene Name

MAGE family member B4

There are no transcripts associated with this gene.

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