Product Details

SNP ID

rs202089444

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:57235789 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGCTCAGGCGGTTCCAGGGCTCC[A/G]GGTTGTTCTTTCTGTCCCAGCTGTG

Phenotype

MIM: 604637 MIM: 138450 MIM: 615521

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

NDUFA4L2 PubMed Links

Additional Information

For this assay, SNP(s) [rs58212469] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

NDUFA4L2

Gene Name

NDUFA4, mitochondrial complex associated like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020142.3	1046	Missense Mutation	CCG,CTG	P56L	NP_064527.1
XM_005269033.2	1046	Missense Mutation	CCG,CTG	P130L	XP_005269090.1
XM_011538573.2	1046	Missense Mutation	CCG,CTG	P134L	XP_011536875.1

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	1046	Intron			NP_001159828.1
NM_001166357.1	1046	Intron			NP_001159829.1
NM_001166358.1	1046	Intron			NP_001159830.1
NM_001166359.1	1046	Intron			NP_001159831.1
NM_005412.5	1046	Intron			NP_005403.2
XM_011538675.2	1046	Intron			XP_011536977.1
XM_011538676.2	1046	Intron			XP_011536978.1
XM_011538677.2	1046	Intron			XP_011536979.1
XM_011538678.2	1046	Intron			XP_011536980.1

Gene

STAC3

Gene Name

SH3 and cysteine rich domain 3

There are no transcripts associated with this gene.

View Full Product Details