Product Details

SNP ID
rs143094662
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:57232220 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTCTCACTTCGCAGTCTCACCCA[C/T]GGCTACATGTCTGACGTCAAGCGGA
Phenotype
MIM: 604637 MIM: 138450
Polymorphism
C/T, Transition 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_001166356.1 631 Silent Mutation CAC,CAT H174H NP_001159828.1
NM_001166357.1 631 Silent Mutation CAC,CAT H153H NP_001159829.1
NM_001166358.1 631 Silent Mutation CAC,CAT H153H NP_001159830.1
NM_001166359.1 631 Silent Mutation CAC,CAT H153H NP_001159831.1
NM_005412.5 631 Silent Mutation CAC,CAT H174H NP_005403.2
XM_011538675.2 631 Missense Mutation ACG,ATG T69M XP_011536977.1
XM_011538676.2 631 Missense Mutation ACG,ATG T69M XP_011536978.1
XM_011538677.2 631 Missense Mutation ACG,ATG T69M XP_011536979.1
XM_011538678.2 631 Missense Mutation ACG,ATG T69M XP_011536980.1

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