Product Details

SNP ID
rs112597852
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:48512998 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACTGTGGTTGGCTGGCTGGCTGA[T/C]GAAGCTTGGCTCTGTGACTCTGTTT
Phenotype
MIM: 300205 MIM: 300651
Polymorphism
T/C, 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 Intron NP_001269096.1
NM_022825.3 Intron NP_073736.2
NM_203473.2 Intron NP_982299.1
NM_203474.1 Intron NP_982300.1
NM_203475.2 Intron NP_982301.1
XM_005272635.2 Intron XP_005272692.1
XM_005272636.2 Intron XP_005272693.1
XM_005272637.1 Intron XP_005272694.1
XM_006724545.3 Intron XP_006724608.1
XM_006724546.3 Intron XP_006724609.1
XM_006724547.1 Intron XP_006724610.1
XM_011543948.2 Intron XP_011542250.1
XM_017029735.1 Intron XP_016885224.1
XM_017029736.1 Intron XP_016885225.1

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