Product Details

SNP ID

rs138261253

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.8:120451198 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGTAGTTCTGATTGGCAAGAGATA[C/G]ATTTTGATACAGAAAAAGATAAAAT

Phenotype

MIM: 610200 MIM: 605927

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

MRPL13 PubMed Links

Additional Information

For this assay, SNP(s) [rs61753755] are located under a primer 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

MRPL13

Gene Name

mitochondrial ribosomal protein L13

There are no transcripts associated with this gene.

Gene

MTBP

Gene Name

MDM2 binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022045.4	371	Missense Mutation	CAT,GAT	H101D	NP_071328.2
XM_011516962.2	371	Missense Mutation	CAT,GAT	H101D	XP_011515264.1
XM_011516963.2	371	Missense Mutation	CAT,GAT	H101D	XP_011515265.1

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