Product Details

SNP ID

rs149259090

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:103299475 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGGATTGATGCTGGAAGTAGATA[C/T]GAAAATGAGAAGAACAATGGAACAG

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	307	Silent Mutation	TAC,TAT	Y91Y	NP_004270.2
XM_005250717.3	307	Nonsense Mutation	TAC,TAT	Y91Y	XP_005250774.1
XM_006716181.3	307	Nonsense Mutation	TAC,TAT	Y91Y	XP_006716244.1

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