Product Details

SNP ID

rs145103209

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:38299440 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGACTGATAGAGAGAACTGAACGA[A/G]TGAAGAAGACTATGGCATCACAAGT

Phenotype

MIM: 611850

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MRPL45 PubMed Links

Gene Details

Gene

MRPL45

Gene Name

mitochondrial ribosomal protein L45

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278279.2	495	Missense Mutation	ATG,GTG	M112V	NP_001265208.2
NM_032351.5	495	Missense Mutation	ATG,GTG	M112V	NP_115727.5

View Full Product Details