Product Details

SNP ID
rs199513142
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.22:50517582 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGATGTGCTTCTCTCTCAGGCGGG[C/T]CAAGCAGCTCTCTTCGGTGCAGGAG
Phenotype
MIM: 611230 MIM: 604272 MIM: 131222
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
LMF2 PubMed Links

Gene Details

Gene
LMF2
Gene Name
lipase maturation factor 2
There are no transcripts associated with this gene.

Gene
NCAPH2
Gene Name
non-SMC condensin II complex subunit H2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001185011.1 274 Missense Mutation GCC,GTC A91V NP_001171940.1
NM_014551.4 274 Missense Mutation GCC,GTC A91V NP_055366.3
NM_152299.3 274 Missense Mutation GCC,GTC A91V NP_689512.2
XM_005261912.4 274 Missense Mutation GCC,GTC A64V XP_005261969.1
XM_011530685.2 274 UTR 5 XP_011528987.1
XM_017028793.1 274 Missense Mutation GCC,GTC A64V XP_016884282.1
Gene
SCO2
Gene Name
SCO2 cytochrome c oxidase assembly protein
There are no transcripts associated with this gene.

Gene
TYMP
Gene Name
thymidine phosphorylase
There are no transcripts associated with this gene.

View Full Product Details