Product Details
- SNP ID
-
rs138256269
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.21:46191230 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGGACTTGTTGAAGACCCCAGCAAT[A/G]TTTTCCTAAAAGAACACAGAGAAAT
- Phenotype
-
MIM: 600909
MIM: 612412
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
LSS
PubMed Links
Gene Details
- Gene
- LSS
- Gene Name
- lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001001438.2 |
2082 |
Silent Mutation |
AAC,AAT |
N691N |
NP_001001438.1 |
| NM_001145436.1 |
2082 |
Silent Mutation |
AAC,AAT |
N680N |
NP_001138908.1 |
| NM_001145437.1 |
2082 |
Silent Mutation |
AAC,AAT |
N611N |
NP_001138909.1 |
| NM_002340.5 |
2082 |
Silent Mutation |
AAC,AAT |
N691N |
NP_002331.3 |
| XM_006724004.3 |
2082 |
Intron |
|
|
XP_006724067.1 |
| XM_011529564.2 |
2082 |
Silent Mutation |
AAC,AAT |
N701N |
XP_011527866.1 |
| XM_011529565.1 |
2082 |
Silent Mutation |
AAC,AAT |
N701N |
XP_011527867.1 |
| XM_011529566.2 |
2082 |
Silent Mutation |
AAC,AAT |
N690N |
XP_011527868.1 |
| XM_011529567.2 |
2082 |
Silent Mutation |
AAC,AAT |
N669N |
XP_011527869.1 |
| XM_017028346.1 |
2082 |
Silent Mutation |
AAC,AAT |
N691N |
XP_016883835.1 |
| XM_017028347.1 |
2082 |
Silent Mutation |
AAC,AAT |
N680N |
XP_016883836.1 |
| XM_017028348.1 |
2082 |
Silent Mutation |
AAC,AAT |
N669N |
XP_016883837.1 |
- Gene
- SPATC1L
- Gene Name
- spermatogenesis and centriole associated 1-like
There are no transcripts associated with this gene.
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