Product Details

SNP ID
rs104894803
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:68829886 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCAAGAACCTGGAGCCCGTATCCT[A/G]GAGCTCCCTCAACCCCAAGTGAGTA
Phenotype
MIM: 300035
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
EFNB1 PubMed Links

Gene Details

Gene
EFNB1
Gene Name
ephrin B1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004429.4 890 Nonsense Mutation TAG,TGG *37W NP_004420.1

View Full Product Details