Product Details

SNP ID

hCV27860237

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.1:161306404 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGTAGAAAAGCAGCAGCAGCAAC[A/C]GCACCACCCCGAGGACACCCCCGAT

Phenotype

MIM: 159440 MIM: 602413

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

MPZ PubMed Links

Gene Details

Gene

MPZ

Gene Name

myelin protein zero

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000530.7	576	Missense Mutation	CGG,CTG	R170L	NP_000521.2
NM_001315491.1	576	Missense Mutation	CGG,CTG	R170L	NP_001302420.1

Gene

SDHC

Gene Name

succinate dehydrogenase complex subunit C

There are no transcripts associated with this gene.

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