Product Details
- SNP ID
-
rs137852218
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:48511932 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGACACCGTGACATGGCACAAGATG[C/T]GAGGTAGGTAGCCCTGCCCCTCTCA
- 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 |
689 |
Nonsense Mutation |
CGA,TGA |
R53* |
NP_001269096.1 |
| NM_022825.3 |
689 |
Nonsense Mutation |
CGA,TGA |
R124* |
NP_073736.2 |
| NM_203473.2 |
689 |
Nonsense Mutation |
CGA,TGA |
R124* |
NP_982299.1 |
| NM_203474.1 |
689 |
Nonsense Mutation |
CGA,TGA |
R124* |
NP_982300.1 |
| NM_203475.2 |
689 |
Nonsense Mutation |
CGA,TGA |
R124* |
NP_982301.1 |
| XM_005272635.2 |
689 |
Nonsense Mutation |
CGA,TGA |
R237* |
XP_005272692.1 |
| XM_005272636.2 |
689 |
Nonsense Mutation |
CGA,TGA |
R237* |
XP_005272693.1 |
| XM_005272637.1 |
689 |
Nonsense Mutation |
CGA,TGA |
R208* |
XP_005272694.1 |
| XM_006724545.3 |
689 |
Nonsense Mutation |
CGA,TGA |
R141* |
XP_006724608.1 |
| XM_006724546.3 |
689 |
Nonsense Mutation |
CGA,TGA |
R124* |
XP_006724609.1 |
| XM_006724547.1 |
689 |
Nonsense Mutation |
CGA,TGA |
R53* |
XP_006724610.1 |
| XM_011543948.2 |
689 |
Nonsense Mutation |
CGA,TGA |
R53* |
XP_011542250.1 |
| XM_017029735.1 |
689 |
Nonsense Mutation |
CGA,TGA |
R237* |
XP_016885224.1 |
| XM_017029736.1 |
689 |
Nonsense Mutation |
CGA,TGA |
R53* |
XP_016885225.1 |
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