Product Details

SNP ID

rs200739996

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:185144984 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGATCGGCATAAGCAGTTCTGGC[G/T]CTACTTTGCTGGTAACCTGGCGTCC

Phenotype

MIM: 103220

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SLC25A4 PubMed Links

Gene Details

Gene

SLC25A4

Gene Name

solute carrier family 25 member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001151.3	442	Missense Mutation	CGC,CTC	R111L	NP_001142.2

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