Product Details

SNP ID

rs11829843

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:57239427 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTCTTCTGGTGTGAGATGGGACC[C/G]GAGGGCGGAGAGGGGACGCGGAAGC

Phenotype

MIM: 138450 MIM: 615521

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NDUFA4L2 PubMed Links

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		Intron			NP_064527.1
XM_005269033.2		Intron			XP_005269090.1
XM_011538573.2		Intron			XP_011536875.1

Gene

SHMT2

Gene Name

serine hydroxymethyltransferase 2

There are no transcripts associated with this gene.

Gene

STAC3

Gene Name

SH3 and cysteine rich domain 3

There are no transcripts associated with this gene.

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