Product Details

SNP ID
rs144527949
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:50503405 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGAACACAGCTACTTCTTTCGCC[A/G]GGTGGTCCTCGAACTACTGGAGCAG
Phenotype
MIM: 611230
Polymorphism
A/G, Transition 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 2587 Missense Mutation CGG,TGG R704W NP_149977.2
XM_005261955.3 2587 Missense Mutation CGG,TGG R679W XP_005262012.1
XM_006724426.3 2587 Missense Mutation CGG,TGG R649W XP_006724489.1
XM_006724427.3 2587 Missense Mutation CGG,TGG R649W XP_006724490.1
XM_017029077.1 2587 Missense Mutation CGG,TGG R666W 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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