Product Details

SNP ID
rs201255121
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:15230970 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGACACCGCTGAGAAGGGCCAGGG[G/T]GAAGGCCACCCAGGCCAGGATGTAG
Phenotype
MIM: 601097
Polymorphism
G/T, Transversion 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_000304.3 629 Missense Mutation ACC,CCC T144P NP_000295.1
NM_001281455.1 629 Missense Mutation ACC,CCC T144P NP_001268384.1
NM_001281456.1 629 Missense Mutation ACC,CCC T144P NP_001268385.1
NM_153321.2 629 Missense Mutation ACC,CCC T144P NP_696996.1
NM_153322.2 629 Missense Mutation ACC,CCC T144P NP_696997.1
XM_017024775.1 629 Intron XP_016880264.1
XM_017024776.1 629 Intron XP_016880265.1

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