Product Details

SNP ID

rs2123374

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:15588832 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTTGAGTTGGAGATGATCACTCCA[C/G]GTTCTCTGCCTTTTTCCAGCCCGTT

Phenotype

MIM: 604596

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CDRT1 PubMed Links

Gene Details

Gene

CDRT1

Gene Name

CMT1A duplicated region transcript 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282540.1	2594	Intron			NP_001269469.1
NM_006382.3	2594	UTR 3			NP_006373.2

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