Product Details

SNP ID
rs34381006
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:15437923 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCCATGGCCAATACCGAATAAGC[A/G]CCCCACATTGATAACGTGGATTCTG
Phenotype
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CDRT4 PubMed Links

Gene Details

Gene
CDRT4
Gene Name
CMT1A duplicated region transcript 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204477.1 590 Silent Mutation GGC,GGT G103G NP_001191406.1
Gene
TVP23C-CDRT4
Gene Name
TVP23C-CDRT4 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001204478.1 590 UTR 3 NP_001191407.1

View Full Product Details