Product Details

SNP ID

rs41382847

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:75652233 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAAGATATGTTAGAAAGGAGAAAA[A/G]TACTCCACATTCCAGAGTTCTATGT

Phenotype

MIM: 611832

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MRPL19 PubMed Links

Gene Details

Gene

MRPL19

Gene Name

mitochondrial ribosomal protein L19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014763.3	338	Missense Mutation	ATA,GTA	I105V	NP_055578.2

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