Product Details

SNP ID

rs148703212

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:165991643 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTAGAGCATCCATCTCTCCACTCT[C/G]TCCTAGAACCCGCTTTGTAAAAGCA

Phenotype

MIM: 182389

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LOC102724058 PubMed Links

Gene Details

Gene

LOC102724058

Gene Name

uncharacterized LOC102724058

There are no transcripts associated with this gene.

Gene

SCN1A

Gene Name

sodium voltage-gated channel alpha subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001165963.1	5837	Missense Mutation	CAG,GAG	Q1878E	NP_001159435.1
NM_001165964.1	5837	Missense Mutation	CAG,GAG	Q1850E	NP_001159436.1
NM_001202435.1	5837	Missense Mutation	CAG,GAG	Q1878E	NP_001189364.1
NM_006920.4	5837	Missense Mutation	CAG,GAG	Q1867E	NP_008851.3
XM_011511602.2	5837	Missense Mutation	CAG,GAG	Q1878E	XP_011509904.1
XM_011511604.2	5837	Missense Mutation	CAG,GAG	Q1867E	XP_011509906.1
XM_011511605.2	5837	Missense Mutation	CAG,GAG	Q1866E	XP_011509907.1
XM_011511606.2	5837	Missense Mutation	CAG,GAG	Q1850E	XP_011509908.1
XM_017004644.1	5837	Missense Mutation	CAG,GAG	Q1878E	XP_016860133.1
XM_017004645.1	5837	Missense Mutation	CAG,GAG	Q1867E	XP_016860134.1
XM_017004646.1	5837	Missense Mutation	CAG,GAG	Q1867E	XP_016860135.1
XM_017004647.1	5837	Missense Mutation	CAG,GAG	Q1867E	XP_016860136.1
XM_017004648.1	5837	Missense Mutation	CAG,GAG	Q1867E	XP_016860137.1
XM_017004649.1	5837	Missense Mutation	CAG,GAG	Q1867E	XP_016860138.1
XM_017004650.1	5837	Missense Mutation	CAG,GAG	Q1866E	XP_016860139.1
XM_017004651.1	5837	Missense Mutation	CAG,GAG	Q1850E	XP_016860140.1
XM_017004652.1	5837	Missense Mutation	CAG,GAG	Q1850E	XP_016860141.1
XM_017004653.1	5837	Missense Mutation	CAG,GAG	Q1849E	XP_016860142.1
XM_017004654.1	5837	Missense Mutation	CAG,GAG	Q1064E	XP_016860143.1

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