Product Details

SNP ID

rs200586913

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:139344162 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAACCGCTACCTTGCTCTTTCGAG[A/G]TGGGGCTGCCACGCCGCCGGTTCAG

Phenotype

MIM: 605810

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MRPS22 PubMed Links

Gene Details

Gene

MRPS22

Gene Name

mitochondrial ribosomal protein S22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020191.2	143	Missense Mutation	ATG,GTG	M46V	NP_064576.1
XM_005247640.2	143	Missense Mutation	ATG,GTG	M46V	XP_005247697.1
XM_006713703.3	143	Missense Mutation	ATG,GTG	M46V	XP_006713766.1
XM_011512995.2	143	Intron			XP_011511297.1
XM_011512996.2	143	Intron			XP_011511298.1

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