Product Details

SNP ID
rs7415
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:15229806 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTACTCTGATGTTTATTTTAATG[A/C]ATCTTAGTCCACACAGTTGGTATAA
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 1793 UTR 3 NP_000295.1
NM_001281455.1 1793 UTR 3 NP_001268384.1
NM_001281456.1 1793 UTR 3 NP_001268385.1
NM_153321.2 1793 UTR 3 NP_696996.1
NM_153322.2 1793 UTR 3 NP_696997.1
XM_017024775.1 1793 Intron XP_016880264.1
XM_017024776.1 1793 Intron XP_016880265.1

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