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SNP ID

rs111980169

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:42932399 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGCAGGGAAAATGGCGCTGGCC[A/G]TGCTGGTCTTGGTGGTTTCGCCGTG

Phenotype

MIM: 611839 MIM: 176842

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MRPL32 PubMed Links

Gene Details

Gene

MRPL32

Gene Name

mitochondrial ribosomal protein L32

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_031903.2		Intron			NP_114109.1

Gene

PSMA2

Gene Name

proteasome subunit alpha 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002787.4		Intron			NP_002778.1

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