Product Details

SNP ID
rs2187119
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:46191444 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTCAGACTCCCCGCCCTGCAGCA[A/G]ACCCTAAGCCAGGGTCACCAGCCCC
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 Intron NP_001001438.1
NM_001145436.1 Intron NP_001138908.1
NM_001145437.1 Intron NP_001138909.1
NM_002340.5 Intron NP_002331.3
XM_006724004.3 Intron XP_006724067.1
XM_011529564.2 Intron XP_011527866.1
XM_011529565.1 Intron XP_011527867.1
XM_011529566.2 Intron XP_011527868.1
XM_011529567.2 Intron XP_011527869.1
XM_017028346.1 Intron XP_016883835.1
XM_017028347.1 Intron XP_016883836.1
XM_017028348.1 Intron 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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