Product Details

SNP ID

rs3180253

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:103216425 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGTAGGGCAGATGATGGAAATCA[A/T]GAGAAAGACTAGGGAACAGCAGATG

Phenotype

MIM: 300692

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

BEX4 PubMed Links

Gene Details

Gene

BEX4

Gene Name

brain expressed X-linked 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080425.3	424	Missense Mutation	AAG,ATG	K91M	NP_001073894.1
NM_001127688.2	424	Missense Mutation	AAG,ATG	K91M	NP_001121160.1

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