Product Details

SNP ID

rs144247178

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:88467737 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGTCATGCAGGCTGTGAGAAACG[C/T]GGGGTCGCGGTTCCTGCGGTCCTGG

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	285	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	285	Missense Mutation	GCG,GTG	A7V	NP_001308899.1
NM_001321972.1	285	UTR 5			NP_001308901.1
NM_001321973.1	285	Missense Mutation	GCG,GTG	A7V	NP_001308902.1
NM_001321974.1	285	Missense Mutation	GCG,GTG	A7V	NP_001308903.1
NM_001321976.1	285	UTR 5			NP_001308905.1
NM_022839.4	285	Missense Mutation	GCG,GTG	A7V	NP_073750.2
NM_176805.3	285	Missense Mutation	GCG,GTG	A7V	NP_789775.1

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