Product Details

SNP ID
rs11576872
Assay Type
Functionally tested
NCBI dbSNP Submissions
15
Location
Chr.1:5991863 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATGCGCGCGGACTAGGGCGCGGG[C/G]AGCCAAGGCCCAGAACATCGGTACC
Phenotype
MIM: 601142 MIM: 607215
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KCNAB2 PubMed Links

Gene Details

Gene
KCNAB2
Gene Name
potassium voltage-gated channel subfamily A regulatory beta subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199860.1 46 Intron NP_001186789.1
NM_001199861.1 46 Intron NP_001186790.1
NM_001199862.1 46 Intron NP_001186791.1
NM_001199863.1 46 Intron NP_001186792.1
NM_003636.3 46 Intron NP_003627.1
NM_172130.2 46 Intron NP_742128.1
XM_005263514.2 46 Intron XP_005263571.1
XM_011542321.2 46 Intron XP_011540623.1
XM_011542322.2 46 Intron XP_011540624.1
XM_017002618.1 46 Intron XP_016858107.1
XM_017002619.1 46 Intron XP_016858108.1
XM_017002620.1 46 Intron XP_016858109.1
XM_017002621.1 46 Intron XP_016858110.1
Gene
NPHP4
Gene Name
nephronophthisis 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291593.1 46 Intron NP_001278522.1
NM_001291594.1 46 Intron NP_001278523.1
NM_015102.4 46 Intron NP_055917.1
XM_006710563.3 46 Intron XP_006710626.1
XM_011541213.1 46 Intron XP_011539515.1
XM_011541214.1 46 Intron XP_011539516.1
XM_011541215.1 46 Intron XP_011539517.1
XM_011541216.2 46 UTR 5 XP_011539518.1
XM_011541217.2 46 UTR 5 XP_011539519.1
XM_011541218.2 46 Intron XP_011539520.1
XM_017000996.1 46 Intron XP_016856485.1
XM_017000997.1 46 Intron XP_016856486.1
XM_017000998.1 46 Intron XP_016856487.1
XM_017000999.1 46 Intron XP_016856488.1
XM_017001000.1 46 Intron XP_016856489.1
XM_017001001.1 46 Intron XP_016856490.1
XM_017001002.1 46 Intron XP_016856491.1
XM_017001003.1 46 Intron XP_016856492.1

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