Product Details

SNP ID
rs200993686
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:50503618 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCAGAGCAGGGCGGGGGCCTCCA[C/G]GGGAGACAGCTGAGAGCGAGTCCAG
Phenotype
MIM: 611230
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
LMF2 PubMed Links

Gene Details

Gene
LMF2
Gene Name
lipase maturation factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033200.2 2374 Missense Mutation CTG,GTG L633V NP_149977.2
XM_005261955.3 2374 Missense Mutation CTG,GTG L608V XP_005262012.1
XM_006724426.3 2374 Missense Mutation CTG,GTG L578V XP_006724489.1
XM_006724427.3 2374 Missense Mutation CTG,GTG L578V XP_006724490.1
XM_017029077.1 2374 Missense Mutation CTG,GTG L595V XP_016884566.1
Gene
NCAPH2
Gene Name
non-SMC condensin II complex subunit H2
There are no transcripts associated with this gene.

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