Product Details

SNP ID

rs146436573

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:120445509 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGCTGGTGATCTGGGGGGAAGG[A/C]AAATTCCCGTCGGCGGCCAGTAGGG

Phenotype

MIM: 610200 MIM: 605927

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

MRPL13 PubMed Links

Gene Details

Gene

MRPL13

Gene Name

mitochondrial ribosomal protein L13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014078.5	109	Intron			NP_054797.2

Gene

MTBP

Gene Name

MDM2 binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022045.4	109	Silent Mutation	GGA,GGC	G13G	NP_071328.2
XM_011516962.2	109	Silent Mutation	GGA,GGC	G13G	XP_011515264.1
XM_011516963.2	109	Silent Mutation	GGA,GGC	G13G	XP_011515265.1

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