Product Details

SNP ID

rs202176679

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:161306116 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCAAGTCCCGCTAACCTGCCGCC[C/G]GCGCTTCGACGCGTCCTTTCCTGGC

Phenotype

MIM: 159440 MIM: 602413

Polymorphism

C/G, 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	701	Missense Mutation	CGG,GGG	R213G	NP_000521.2
NM_001315491.1	701	Missense Mutation	CGG,GGG	R213G	NP_001302420.1
XM_017001321.1	701	Missense Mutation	CGG,GGG	R223G	XP_016856810.1

Gene

SDHC

Gene Name

succinate dehydrogenase complex subunit C

There are no transcripts associated with this gene.

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