Product Details

SNP ID

rs143537709

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:38847035 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAAGAATATCCATGCAGTGGAGGC[A/G]ATCTTCACTCACCATGGGCAAGTCC

Phenotype

MIM: 604385

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

SCN11A PubMed Links

Additional Information

For this assay, SNP(s) [rs61752574] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

SCN11A

Gene Name

sodium voltage-gated channel alpha subunit 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287223.1	3843	Missense Mutation	CGC,TGC	R1679C	NP_001274152.1
NM_014139.2	3843	Missense Mutation	CGC,TGC	R1679C	NP_054858.2
XM_011533321.2	3843	Missense Mutation	CGC,TGC	R1458C	XP_011531623.1
XM_017005647.1	3843	Missense Mutation	CGC,TGC	R1804C	XP_016861136.1
XM_017005648.1	3843	Missense Mutation	CGC,TGC	R1613C	XP_016861137.1
XM_017005649.1	3843	Missense Mutation	CGC,TGC	R1679C	XP_016861138.1
XM_017005650.1	3843	Missense Mutation	CGC,TGC	R1679C	XP_016861139.1
XM_017005651.1	3843	Missense Mutation	CGC,TGC	R1588C	XP_016861140.1
XM_017005652.1	3843	Intron			XP_016861141.1
XM_017005653.1	3843	Missense Mutation	CGC,TGC	R1147C	XP_016861142.1

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