Product Details

SNP ID

rs201283176

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:103297484 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATGGCGGCTGCGGCGGCTCGAGTG[C/G]TGTTGTCATCCGCGGCGCGGCGGCG

Phenotype

MIM: 603131

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

PMPCB PubMed Links

Additional Information

For this assay, SNP(s) [rs2301861] 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

PMPCB

Gene Name

peptidase, mitochondrial processing beta subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004279.2	59	Missense Mutation	CTG,GTG	L9V	NP_004270.2
XM_005250717.3	59	Missense Mutation	CTG,GTG	L9V	XP_005250774.1
XM_006716181.3	59	Missense Mutation	CTG,GTG	L9V	XP_006716244.1

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