Product Details

SNP ID

rs149460784

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:184346751 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTCGGAAGCTGGCGAGGGGCGGC[C/T]GGACTTTCACACCCTGTGCTGTGAC

Phenotype

MIM: 600570

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CLCN2 PubMed Links

Gene Details

Gene

CLCN2

Gene Name

chloride voltage-gated channel 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171087.2	2673	Missense Mutation	CAG,CGG	Q834R	NP_001164558.1
NM_001171088.2	2673	Missense Mutation	CAG,CGG	Q807R	NP_001164559.1
NM_001171089.2	2673	Missense Mutation	CAG,CGG	Q822R	NP_001164560.1
NM_004366.5	2673	Missense Mutation	CAG,CGG	Q851R	NP_004357.3
XM_006713489.1	2673	Missense Mutation	CAG,CGG	Q816R	XP_006713552.1
XM_006713490.2	2673	Missense Mutation	CAG,CGG	Q465R	XP_006713553.1
XM_011512401.1	2673	Intron			XP_011510703.1

Gene

FAM131A

Gene Name

family with sequence similarity 131 member A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171093.1	2673	Intron			NP_001164564.1
NM_144635.4	2673	Intron			NP_653236.3
XM_005247113.2	2673	Intron			XP_005247170.1
XM_005247114.3	2673	Intron			XP_005247171.1
XM_011512413.2	2673	Intron			XP_011510715.1

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