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SNP ID

rs104894799

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48523958 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTGTCCCATTGGGGACTTGGCGG[C/T]GACTGTCCCTGTGCTGGTTTGCAGT

Phenotype

MIM: 300205 MIM: 300651

Polymorphism

C/T, Transition 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	392	Nonsense Mutation	CGA,TGA	R63*	NP_006570.1

Gene

PORCN

Gene Name

porcupine homolog (Drosophila)

There are no transcripts associated with this gene.

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