Product Details

SNP ID

rs121913593

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:161306110 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTAGGCCCCAAGTCCCGCTAACCT[A/G]CCGCCCGCGCTTCGACGCGTCCTTT

Phenotype

MIM: 159440 MIM: 602413

Polymorphism

A/G, Transition 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	707	Nonsense Mutation	CAG,TAG	Q215*	NP_000521.2
NM_001315491.1	707	Nonsense Mutation	CAG,TAG	Q215*	NP_001302420.1
XM_017001321.1	707	Nonsense Mutation	CAG,TAG	Q225*	XP_016856810.1

Gene

SDHC

Gene Name

succinate dehydrogenase complex subunit C

There are no transcripts associated with this gene.

View Full Product Details