Product Details

SNP ID

rs201883358

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:88468013 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGAACAGAACGCGGCTCCCAGCCA[C/T]ACCAAGTTCAGGTGAGCCCCACTTG

Phenotype

MIM: 611851 MIM: 611977

Polymorphism

C/T, Transition 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	433	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	433	Silent Mutation	CAC,CAT	H56H	NP_001308899.1
NM_001321972.1	433	UTR 5			NP_001308901.1
NM_001321973.1	433	Silent Mutation	CAC,CAT	H56H	NP_001308902.1
NM_001321974.1	433	Silent Mutation	CAC,CAT	H57H	NP_001308903.1
NM_001321976.1	433	UTR 5			NP_001308905.1
NM_022839.4	433	Silent Mutation	CAC,CAT	H57H	NP_073750.2
NM_176805.3	433	Silent Mutation	CAC,CAT	H57H	NP_789775.1

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