Product Details

SNP ID

rs61741121

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:88468001 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAAGCAGAAAGTTGAACAGAACGC[G/T]GCTCCCAGCCACACCAAGTTCAGGT

Phenotype

MIM: 611851 MIM: 611977

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MRPL46 PubMed Links

Gene Details

Gene

MRPL46

Gene Name

mitochondrial ribosomal protein L46

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022163.3	421	Intron			NP_071446.2

Gene

MRPS11

Gene Name

mitochondrial ribosomal protein S11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321970.1	421	Silent Mutation	GCG,GCT	A52A	NP_001308899.1
NM_001321972.1	421	UTR 5			NP_001308901.1
NM_001321973.1	421	Silent Mutation	GCG,GCT	A52A	NP_001308902.1
NM_001321974.1	421	Silent Mutation	GCG,GCT	A53A	NP_001308903.1
NM_001321976.1	421	UTR 5			NP_001308905.1
NM_022839.4	421	Silent Mutation	GCG,GCT	A53A	NP_073750.2
NM_176805.3	421	Silent Mutation	GCG,GCT	A53A	NP_789775.1

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