Product Details

SNP ID

rs3174500

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:103063250 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCATTTTCCATGCTGAGACTGTTTA[C/A]TGCTCGTTTCTCTTTGGACTCCATT

Phenotype

MIM: 300690

Polymorphism

C/A, Transversion substitution

Allele Nomenclature

Literature Links

BEX1 PubMed Links

Gene Details

Gene

BEX1

Gene Name

brain expressed X-linked 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018476.3	265	Missense Mutation	GTA,TTA	V9L	NP_060946.3

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