Product Details

SNP ID

rs147112593

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:89561660 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCGGAACAAGTCCACGGAGTCCC[G/T]GCAGGCCAACGTGCAGCGGCTGAAG

Phenotype

MIM: 113703 MIM: 602783

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

RPL13 PubMed Links

Additional Information

For this assay, SNP(s) [rs9930567] 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

RPL13

Gene Name

ribosomal protein L13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000977.3	405	Missense Mutation	CGG,CTG	R110L	NP_000968.2
NM_001243130.1	405	Missense Mutation	CGG,CTG	R91L	NP_001230059.1
NM_001243131.1	405	Intron			NP_001230060.1
NM_033251.2	405	Missense Mutation	CGG,CTG	R110L	NP_150254.1

Gene

SNORD68

Gene Name

small nucleolar RNA, C/D box 68

There are no transcripts associated with this gene.

Gene

SPG7

Gene Name

SPG7, paraplegin matrix AAA peptidase subunit

There are no transcripts associated with this gene.

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