Product Details

SNP ID
rs150034611
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:48523809 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGGCCCCTTGCACCCATACTGGC[C/G]TCAGCACCTAAGACTGGACAACTTT
Phenotype
MIM: 300205 MIM: 300651
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
EBP PubMed Links

Gene Details

Gene
EBP
Gene Name
emopamil binding protein (sterol isomerase)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006579.2 243 Missense Mutation CCT,CGT P13R NP_006570.1
Gene
PORCN
Gene Name
porcupine homolog (Drosophila)
There are no transcripts associated with this gene.

View Full Product Details