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SNP ID

rs182712356

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48524053 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTACGAAGACCTGCTTGGAGACCA[A/C]GCCTTCTTATCTCAACTCTGTGAGT

Phenotype

MIM: 300205 MIM: 300651

Polymorphism

A/C, 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	487	Missense Mutation	CAA,CAC	Q94H	NP_006570.1

Gene

PORCN

Gene Name

porcupine homolog (Drosophila)

There are no transcripts associated with this gene.

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