Product Details

SNP ID

rs199656813

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:24913843 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCAACCCGTCCGCCTACCGGCGGG[G/T]AACCGAGACCCGCTCGAGCTTCAGC

Phenotype

MIM: 162250

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

NEFM PubMed Links

Gene Details

Gene

NEFM

Gene Name

neurofilament, medium polypeptide

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105541.1	83	Intron			NP_001099011.1
NM_005382.2	83	Missense Mutation	GGA,GTA	G17V	NP_005373.2

View Full Product Details