Product Details

SNP ID

rs202239518

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:103300205 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCAAGAAGAGATCCCAGTTAGAT[A/C]TGGAACTTGAGATTGAAAATATGGG

Phenotype

MIM: 603131

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PMPCB PubMed Links

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	389	Missense Mutation	ATG,CTG	M119L	NP_004270.2
XM_005250717.3	389	Missense Mutation	ATG,CTG	M119L	XP_005250774.1
XM_006716181.3	389	Missense Mutation	ATG,CTG	M119L	XP_006716244.1

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