Product Details

SNP ID
rs144077495
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:15230977 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCTGAGAAGGGCCAGGGGGAAGGC[A/C]ACCCAGGCCAGGATGTAGGCGAAAC
Phenotype
MIM: 601097
Polymorphism
A/C, 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_000304.3 622 Silent Mutation GTG,GTT V141V NP_000295.1
NM_001281455.1 622 Silent Mutation GTG,GTT V141V NP_001268384.1
NM_001281456.1 622 Silent Mutation GTG,GTT V141V NP_001268385.1
NM_153321.2 622 Silent Mutation GTG,GTT V141V NP_696996.1
NM_153322.2 622 Silent Mutation GTG,GTT V141V NP_696997.1
XM_017024775.1 622 Intron XP_016880264.1
XM_017024776.1 622 Intron XP_016880265.1

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