Product Details

SNP ID
rs148060082
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:48512843 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTTCTGTTACTACAGCAAGAAAC[A/G]CAAAGCCAGGTAAATGAGGGCAGGT
Phenotype
MIM: 300205 MIM: 300651
Polymorphism
A/G, 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 1014 Intron NP_001269096.1
NM_022825.3 1014 Intron NP_073736.2
NM_203473.2 1014 Missense Mutation CAC,CGC H232R NP_982299.1
NM_203474.1 1014 Intron NP_982300.1
NM_203475.2 1014 Missense Mutation CAC,CGC H232R NP_982301.1
XM_005272635.2 1014 Missense Mutation CAC,CGC H345R XP_005272692.1
XM_005272636.2 1014 Intron XP_005272693.1
XM_005272637.1 1014 Missense Mutation CAC,CGC H316R XP_005272694.1
XM_006724545.3 1014 Missense Mutation CAC,CGC H249R XP_006724608.1
XM_006724546.3 1014 Missense Mutation CAC,CGC H232R XP_006724609.1
XM_006724547.1 1014 Missense Mutation CAC,CGC H161R XP_006724610.1
XM_011543948.2 1014 Intron XP_011542250.1
XM_017029735.1 1014 Missense Mutation CAC,CGC H345R XP_016885224.1
XM_017029736.1 1014 Intron XP_016885225.1

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