Product Details

SNP ID
hCV774388
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:15230960 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCACATAGATGACACCGCTGAGA[A/C]GGGCCAGGGGGAAGGCCACCCAGGC
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_000304.3 639 Missense Mutation CGT,CTT R147L NP_000295.1
NM_001281455.1 639 Missense Mutation CGT,CTT R147L NP_001268384.1
NM_001281456.1 639 Missense Mutation CGT,CTT R147L NP_001268385.1
NM_153321.2 639 Missense Mutation CGT,CTT R147L NP_696996.1
NM_153322.2 639 Missense Mutation CGT,CTT R147L NP_696997.1

View Full Product Details