Product Details

SNP ID
rs141094419
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:15230997 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGGCCACCCAGGCCAGGATGTAGG[C/T]GAAACCGTAGGAGTAATCCGAGTTG
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_000304.3 602 Missense Mutation ACC,GCC T135A NP_000295.1
NM_001281455.1 602 Missense Mutation ACC,GCC T135A NP_001268384.1
NM_001281456.1 602 Missense Mutation ACC,GCC T135A NP_001268385.1
NM_153321.2 602 Missense Mutation ACC,GCC T135A NP_696996.1
NM_153322.2 602 Missense Mutation ACC,GCC T135A NP_696997.1
XM_017024775.1 602 Intron XP_016880264.1
XM_017024776.1 602 Intron XP_016880265.1

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