Product Details

SNP ID

rs17850650

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:103298678 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTAGAAAGTGGACTCAGAGTAGC[C/T]TCGGAAGACTCTGGGCTCTCAACAT

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	244	Silent Mutation	GCC,GCT	A70A	NP_004270.2
XM_005250717.3	244	Silent Mutation	GCC,GCT	A70A	XP_005250774.1
XM_006716181.3	244	Silent Mutation	GCC,GCT	A70A	XP_006716244.1

View Full Product Details