Product Details

SNP ID
rs199782046
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:15438004 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGACTTGGAAGACTTCCTCCTTTT[C/T]GGCTGAATGACGCTGGAAGGTTTAT
Phenotype
Polymorphism
C/T, 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_001204477.1 920 Silent Mutation CCA,CCG P76P 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_001204478.1 920 UTR 3 NP_001191407.1

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