Product Details

SNP ID

rs2072700

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81715528 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCATCTACGAGACTGTGCGGGACCG[C/T]GTGGCCAAGGGCAGCCAGGGGCCTC

Phenotype

MIM: 602375 MIM: 606794

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MRPL12 PubMed Links

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	601	Silent Mutation	CGC,CGT	R88R	NP_001257817.1
NM_001270953.1	601	Silent Mutation	CGC,CGT	R88R	NP_001257882.1
NM_012140.4	601	Silent Mutation	CGC,CGT	R88R	NP_036272.2
XM_017024220.1	601	Silent Mutation	CGC,CGT	R45R	XP_016879709.1

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