Product Details

SNP ID

rs121918793

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:165991549 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTTCCTCTTGTTTTCGTTTTAAA[G/A]TAGTAGTGATTGGCTGATAGGAGAC

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	5931	Missense Mutation	ACT,ATT	T1909I	NP_001159435.1
NM_001165964.1	5931	Missense Mutation	ACT,ATT	T1881I	NP_001159436.1
NM_001202435.1	5931	Missense Mutation	ACT,ATT	T1909I	NP_001189364.1
NM_006920.4	5931	Missense Mutation	ACT,ATT	T1898I	NP_008851.3
XM_011511602.2	5931	Missense Mutation	ACT,ATT	T1909I	XP_011509904.1
XM_011511604.2	5931	Missense Mutation	ACT,ATT	T1898I	XP_011509906.1
XM_011511605.2	5931	Missense Mutation	ACT,ATT	T1897I	XP_011509907.1
XM_011511606.2	5931	Missense Mutation	ACT,ATT	T1881I	XP_011509908.1
XM_017004644.1	5931	Missense Mutation	ACT,ATT	T1909I	XP_016860133.1
XM_017004645.1	5931	Missense Mutation	ACT,ATT	T1898I	XP_016860134.1
XM_017004646.1	5931	Missense Mutation	ACT,ATT	T1898I	XP_016860135.1
XM_017004647.1	5931	Missense Mutation	ACT,ATT	T1898I	XP_016860136.1
XM_017004648.1	5931	Missense Mutation	ACT,ATT	T1898I	XP_016860137.1
XM_017004649.1	5931	Missense Mutation	ACT,ATT	T1898I	XP_016860138.1
XM_017004650.1	5931	Missense Mutation	ACT,ATT	T1897I	XP_016860139.1
XM_017004651.1	5931	Missense Mutation	ACT,ATT	T1881I	XP_016860140.1
XM_017004652.1	5931	Missense Mutation	ACT,ATT	T1881I	XP_016860141.1
XM_017004653.1	5931	Missense Mutation	ACT,ATT	T1880I	XP_016860142.1
XM_017004654.1	5931	Missense Mutation	ACT,ATT	T1095I	XP_016860143.1

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