Product Details

SNP ID
rs141369249
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57230973 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCAGAGGGAGAAGGACAGGCAGTG[G/T]CGTGGCCTGGAGCTCATTGCCTCAG
Phenotype
MIM: 604637 MIM: 138450
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
NDUFA4L2 PubMed Links

Gene Details

Gene
NDUFA4L2
Gene Name
NDUFA4, mitochondrial complex associated like 2
There are no transcripts associated with this gene.

Gene
NXPH4
Gene Name
neurexophilin 4
There are no transcripts associated with this gene.

Gene
SHMT2
Gene Name
serine hydroxymethyltransferase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166356.1 313 Missense Mutation TGG,TGT W68C NP_001159828.1
NM_001166357.1 313 Missense Mutation TGG,TGT W47C NP_001159829.1
NM_001166358.1 313 Missense Mutation TGG,TGT W47C NP_001159830.1
NM_001166359.1 313 Missense Mutation TGG,TGT W47C NP_001159831.1
NM_005412.5 313 Missense Mutation TGG,TGT W68C NP_005403.2
XM_011538675.2 313 UTR 5 XP_011536977.1
XM_011538676.2 313 UTR 5 XP_011536978.1
XM_011538677.2 313 UTR 5 XP_011536979.1
XM_011538678.2 313 UTR 5 XP_011536980.1

View Full Product Details