Product Details

SNP ID

rs79716681

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:81443432 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCATAGATTCTGGTGCACACCACG[C/T]CCTTCATTTTACATTCCTTAAAAAA

Phenotype

MIM: 170715

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PMP2 PubMed Links

Gene Details

Gene

PMP2

Gene Name

peripheral myelin protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002677.3	463	Missense Mutation	GAC,GGC	D122G	NP_002668.1

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