Product Details

SNP ID

rs145696649

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:103299622 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGGCAGGGAGAGCTCTTTCAGTA[C/G]TATAACATGTTTTATGTTTATTTTT

Phenotype

MIM: 603131

Polymorphism

C/G, 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		Intron			NP_004270.2
XM_005250717.3		Intron			XP_005250774.1
XM_006716181.3		Intron			XP_006716244.1

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