Product Details

SNP ID

rs147278612

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:1802353 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGATAAAGACTACAGGAGAATTCG[G/T]TTTGTAGGTCGTCAGAAAGAGGTGA

Phenotype

MIM: 611842 MIM: 603848

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

MRPL36 PubMed Links

Gene Details

Gene

MRPL36

Gene Name

mitochondrial ribosomal protein L36

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032479.3	201	Intron			NP_115868.1
XM_011514079.2	201	Intron			XP_011512381.1
XM_011514080.2	201	Intron			XP_011512382.1
XM_017009750.1	201	Intron			XP_016865239.1
XM_017009751.1	201	Intron			XP_016865240.1
XM_017009752.1	201	Intron			XP_016865241.1

Gene

NDUFS6

Gene Name

NADH:ubiquinone oxidoreductase subunit S6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004553.4	201	Silent Mutation	CGG,CGT	R55R	NP_004544.1

View Full Product Details