Product Details

SNP ID

rs16941907

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:88467995 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTGCGGCCAAGCAGAAAGTTGAACA[C/G]AACGCGGCTCCCAGCCACACCAAGT

Phenotype

MIM: 611851 MIM: 611977

Polymorphism

C/G, 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	415	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	415	Missense Mutation	CAC,CAG	H50Q	NP_001308899.1
NM_001321972.1	415	UTR 5			NP_001308901.1
NM_001321973.1	415	Missense Mutation	CAC,CAG	H50Q	NP_001308902.1
NM_001321974.1	415	Missense Mutation	CAC,CAG	H51Q	NP_001308903.1
NM_001321976.1	415	UTR 5			NP_001308905.1
NM_022839.4	415	Missense Mutation	CAC,CAG	H51Q	NP_073750.2
NM_176805.3	415	Missense Mutation	CAC,CAG	H51Q	NP_789775.1

View Full Product Details