Product Details

SNP ID

rs11544946

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:102153944 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCTCAAGATTCAAGGCATAAGGC[A/C]AAACTCATCATGATGATCATGGTGA

Phenotype

MIM: 300693

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BEX5 PubMed Links

Gene Details

Gene

BEX5

Gene Name

brain expressed X-linked 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012978.2	624	Missense Mutation	GGC,TGC	G108C	NP_001012996.1
NM_001159560.1	624	Missense Mutation	GGC,TGC	G108C	NP_001153032.1

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