Product Details

SNP ID

rs202124765

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81715017 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGGGCATGGCGCTGCGGGTGGTGC[A/G]TACCGACGGCATCCTGGCACTCTAC

Phenotype

MIM: 602375 MIM: 606794

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

MRPL12 PubMed Links

Additional Information

For this assay, SNP(s) [rs3204270] are located under a probe 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

MRPL12

Gene Name

mitochondrial ribosomal protein L12

There are no transcripts associated with this gene.

Gene

SLC25A10

Gene Name

solute carrier family 25 member 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270888.1	495	Missense Mutation	CAT,CGT	H53R	NP_001257817.1
NM_001270953.1	495	Missense Mutation	CAT,CGT	H53R	NP_001257882.1
NM_012140.4	495	Missense Mutation	CAT,CGT	H53R	NP_036272.2
XM_017024220.1	495	Missense Mutation	CAT,CGT	H10R	XP_016879709.1

View Full Product Details