Product Details

SNP ID

rs200057403

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:154950871 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAAGTGCTTCTCTTGACATTTCTC[A/G]AAAATGGGAGAAGAAGAATAAAATT

Phenotype

MIM: 611835

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MRPL22 PubMed Links

Gene Details

Gene

MRPL22

Gene Name

mitochondrial ribosomal protein L22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001014990.2	166	Intron			NP_001014990.1
NM_014180.3	166	Missense Mutation	CAA,CGA	Q43R	NP_054899.2

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