Product Details

SNP ID

rs202219612

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.11:1950914 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTGTACAGGTACCCCCTGTACCG[G/T]CTGGGTGGCCCACAACTTCGGGTGT

Phenotype

MIM: 600789

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

MRPL23 PubMed Links

Additional Information

For this assay, SNP(s) [rs34134444] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

MRPL23

Gene Name

mitochondrial ribosomal protein L23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021134.3		Intron			NP_066957.3
XM_006718271.2		Intron			XP_006718334.1
XM_011520273.1		Intron			XP_011518575.1
XM_011520275.2		Intron			XP_011518577.1
XM_011520276.2		Intron			XP_011518578.1

Gene

SNORD131

Gene Name

small nucleolar RNA, C/D box 131

There are no transcripts associated with this gene.

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