Product Details

SNP ID

rs199503439

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:38697681 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGAAATGTCTTCTTGCTTCCATC[A/G]GAGAGTGGTTGCTATTGGTTCATAG

Phenotype

MIM: 604427

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SCN10A PubMed Links

Gene Details

Gene

SCN10A

Gene Name

sodium voltage-gated channel alpha subunit 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001293306.2	5245	Nonsense Mutation	CGA,TGA	R1846*	NP_001280235.2
NM_001293307.2	5245	Nonsense Mutation	CGA,TGA	R1749*	NP_001280236.2
NM_006514.3	5245	Nonsense Mutation	CGA,TGA	R1847*	NP_006505.3
XM_005265371.3	5245	Nonsense Mutation	CGA,TGA	R1850*	XP_005265428.1
XM_011533993.2	5245	Nonsense Mutation	CGA,TGA	R1849*	XP_011532295.1
XM_011533994.2	5245	Nonsense Mutation	CGA,TGA	R1752*	XP_011532296.1

View Full Product Details