Product Details

SNP ID

rs143243676

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:102154000 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCCCTATAAGAATGCGCAGACTG[C/T]ACCTCAACTGAAGTTCCCTAATTTT

Phenotype

MIM: 300693

Polymorphism

C/T, Transition 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	568	Missense Mutation	TAC,TGC	Y89C	NP_001012996.1
NM_001159560.1	568	Missense Mutation	TAC,TGC	Y89C	NP_001153032.1

View Full Product Details