Product Details

SNP ID

rs3744332

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:15438015 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GACTTCCTCCTTTTCGGCTGAATGA[C/T]GCTGGAAGGTTTATTCTGCCTTGAT

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	498	Missense Mutation	ATC,GTC	I73V	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	498	UTR 3			NP_001191407.1

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