Product Details

SNP ID

rs121917981

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:165991510 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGTGGCGTCTGTAAGCACGCTGA[G/A]TAATGACAGCAGATACTTCCTCTTG

Phenotype

MIM: 182389

Polymorphism

G/A, Transition 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	5970	Missense Mutation	ACT,ATT	T1922I	NP_001159435.1
NM_001165964.1	5970	Missense Mutation	ACT,ATT	T1894I	NP_001159436.1
NM_001202435.1	5970	Missense Mutation	ACT,ATT	T1922I	NP_001189364.1
NM_006920.4	5970	Missense Mutation	ACT,ATT	T1911I	NP_008851.3
XM_011511602.2	5970	Missense Mutation	ACT,ATT	T1922I	XP_011509904.1
XM_011511604.2	5970	Missense Mutation	ACT,ATT	T1911I	XP_011509906.1
XM_011511605.2	5970	Missense Mutation	ACT,ATT	T1910I	XP_011509907.1
XM_011511606.2	5970	Missense Mutation	ACT,ATT	T1894I	XP_011509908.1
XM_017004644.1	5970	Missense Mutation	ACT,ATT	T1922I	XP_016860133.1
XM_017004645.1	5970	Missense Mutation	ACT,ATT	T1911I	XP_016860134.1
XM_017004646.1	5970	Missense Mutation	ACT,ATT	T1911I	XP_016860135.1
XM_017004647.1	5970	Missense Mutation	ACT,ATT	T1911I	XP_016860136.1
XM_017004648.1	5970	Missense Mutation	ACT,ATT	T1911I	XP_016860137.1
XM_017004649.1	5970	Missense Mutation	ACT,ATT	T1911I	XP_016860138.1
XM_017004650.1	5970	Missense Mutation	ACT,ATT	T1910I	XP_016860139.1
XM_017004651.1	5970	Missense Mutation	ACT,ATT	T1894I	XP_016860140.1
XM_017004652.1	5970	Missense Mutation	ACT,ATT	T1894I	XP_016860141.1
XM_017004653.1	5970	Missense Mutation	ACT,ATT	T1893I	XP_016860142.1
XM_017004654.1	5970	Missense Mutation	ACT,ATT	T1108I	XP_016860143.1

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