Product Details

SNP ID

rs145055448

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:15437939 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAATAAGCGCCCCACATTGATAAC[A/G]TGGATTCTGACAGCGTGTCCCTGAA

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	574	Missense Mutation	ACG,ATG	T98M	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	574	UTR 3			NP_001191407.1

View Full Product Details