Product Details

SNP ID
rs147014916
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:15231110 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAAGGAGAGGGACAAGCTGGGTGA[C/T]GGAGAGTCCATGGCAGAGCGGCCCC
Phenotype
MIM: 601097
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PMP22 PubMed Links

Gene Details

Gene
PMP22
Gene Name
peripheral myelin protein 22
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000304.3 Intron NP_000295.1
NM_001281455.1 Intron NP_001268384.1
NM_001281456.1 Intron NP_001268385.1
NM_153321.2 Intron NP_696996.1
NM_153322.2 Intron NP_696997.1
XM_017024775.1 Intron XP_016880264.1
XM_017024776.1 Intron XP_016880265.1

View Full Product Details