Product Details

SNP ID

rs143554153

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:48512706 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTACTTCATCCCCCTCAACGGTGAC[C/T]GCCTCCTTCGCAAGTGAGCACAGCC

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)

There are no transcripts associated with this gene.

Gene

LOC101927635

Gene Name

uncharacterized LOC101927635

There are no transcripts associated with this gene.

Gene

PORCN

Gene Name

porcupine homolog (Drosophila)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282167.1	992	Missense Mutation	CGC,TGC	R154C	NP_001269096.1
NM_022825.3	992	Missense Mutation	CGC,TGC	R225C	NP_073736.2
NM_203473.2	992	Missense Mutation	CGC,TGC	R225C	NP_982299.1
NM_203474.1	992	Missense Mutation	CGC,TGC	R225C	NP_982300.1
NM_203475.2	992	Missense Mutation	CGC,TGC	R225C	NP_982301.1
XM_005272635.2	992	Missense Mutation	CGC,TGC	R338C	XP_005272692.1
XM_005272636.2	992	Missense Mutation	CGC,TGC	R338C	XP_005272693.1
XM_005272637.1	992	Missense Mutation	CGC,TGC	R309C	XP_005272694.1
XM_006724545.3	992	Missense Mutation	CGC,TGC	R242C	XP_006724608.1
XM_006724546.3	992	Missense Mutation	CGC,TGC	R225C	XP_006724609.1
XM_006724547.1	992	Missense Mutation	CGC,TGC	R154C	XP_006724610.1
XM_011543948.2	992	Missense Mutation	CGC,TGC	R154C	XP_011542250.1
XM_017029735.1	992	Missense Mutation	CGC,TGC	R338C	XP_016885224.1
XM_017029736.1	992	Missense Mutation	CGC,TGC	R154C	XP_016885225.1

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