Product Details

SNP ID
rs201220597
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:184346658 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGGCTGCCCTCCCGGGGGAGGCCA[C/T]GACGGGAGTGGGGCCCCCAGAGTGC
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 2766 Missense Mutation CAT,CGT H865R NP_001164558.1
NM_001171088.2 2766 Missense Mutation CAT,CGT H838R NP_001164559.1
NM_001171089.2 2766 Missense Mutation CAT,CGT H853R NP_001164560.1
NM_004366.5 2766 Missense Mutation CAT,CGT H882R NP_004357.3
XM_006713489.1 2766 Missense Mutation CAT,CGT H847R XP_006713552.1
XM_006713490.2 2766 Missense Mutation CAT,CGT H496R XP_006713553.1
XM_011512401.1 2766 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 2766 Intron NP_001164564.1
NM_144635.4 2766 Intron NP_653236.3
XM_005247113.2 2766 Intron XP_005247170.1
XM_005247114.3 2766 Intron XP_005247171.1
XM_011512413.2 2766 Intron XP_011510715.1

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