Product Details

SNP ID

rs2301861

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:103297437 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GCGACCCCGGAAGCACATCCTTCAT[C/T]CTCTACCTTCCTTCTAGCAGAAATG

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	12	UTR 5			NP_004270.2
XM_005250717.3	12	UTR 5			XP_005250774.1
XM_006716181.3	12	UTR 5			XP_006716244.1

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