Product Details

SNP ID
rs1045057
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:103310396 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGTCTCCTCCTCCCGATTCTCG[C/A]CGTGAGGTGCGTCGCCGCAACACTT
Phenotype
MIM: 300691
Polymorphism
C/A, Transversion substitution
Allele Nomenclature
Literature Links
BEX2 PubMed Links

Gene Details

Gene
BEX2
Gene Name
brain expressed X-linked 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001168399.1 153 Missense Mutation GGC,GTC G18V NP_001161871.1
NM_001168400.1 153 Missense Mutation GGC,GTC G17V NP_001161872.1
NM_001168401.1 153 UTR 5 NP_001161873.1
NM_032621.3 153 UTR 5 NP_116010.1

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