Product Details

SNP ID

rs138251541

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:103297467 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTTCCTTCTAGCAGAAATGGCGG[C/T]TGCGGCGGCTCGAGTGGTGTTGTCA

Phenotype

MIM: 603131

Polymorphism

C/T, Transition 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	42	Missense Mutation	GCT,GTT	A3V	NP_004270.2
XM_005250717.3	42	Missense Mutation	GCT,GTT	A3V	XP_005250774.1
XM_006716181.3	42	Missense Mutation	GCT,GTT	A3V	XP_006716244.1

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