Product Details

SNP ID
rs11654383
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:15229797 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AGACCAGTGAGTTACTCTGATGTTT[A/G]TTTTAATGCATCTTAGTCCACACAG
Phenotype
MIM: 601097
Polymorphism
A/G, 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 1802 UTR 3 NP_000295.1
NM_001281455.1 1802 UTR 3 NP_001268384.1
NM_001281456.1 1802 UTR 3 NP_001268385.1
NM_153321.2 1802 UTR 3 NP_696996.1
NM_153322.2 1802 UTR 3 NP_696997.1
XM_017024775.1 1802 Intron XP_016880264.1
XM_017024776.1 1802 Intron XP_016880265.1

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