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SNP ID

rs187549617

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:81444696 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAACCATTTTCATAATAGATATAG[A/C]TGTCTCAGGAGGTACACTCCTTTTC

Phenotype

MIM: 170715

Polymorphism

A/C, Transversion 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		Intron			NP_002668.1

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