Product Details

SNP ID

rs144688256

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:57225103 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCGCGCAGCGCACCAAGAGGAAG[A/C]CGTCCATCAAGGCGGCGCGCGCCAA

Phenotype

MIM: 604637 MIM: 138450

Polymorphism

A/C, 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007224.3	458	Missense Mutation	ACG,CCG	T95P	NP_009155.1
XM_017018747.1	458	Missense Mutation	ACG,CCG	T95P	XP_016874236.1

Gene

SHMT2

Gene Name

serine hydroxymethyltransferase 2

There are no transcripts associated with this gene.

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