Product Details

SNP ID

rs113030653

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:57244227 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCGACCTTCTCCCCGATTTTCCCC[C/T]AGGGAAGATAGTAGGGAGAGTCCAT

Phenotype

MIM: 138450 MIM: 615521

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

R3HDM2

Gene Name

R3H domain containing 2

There are no transcripts associated with this gene.

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286256.1		Intron			NP_001273185.1
NM_001286257.1		Intron			NP_001273186.1
NM_145064.2		Intron			NP_659501.1
XM_011538126.2		Intron			XP_011536428.1

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