Product Details

SNP ID
rs140547586
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:5994244 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGCTCCTGCTCTGCTAAGGAAGCC[A/G]CATTCAGGCCCCGCGTTGCAGGTTG
Phenotype
MIM: 601142 MIM: 607215
Polymorphism
A/G, Transition 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 Intron NP_001186789.1
NM_001199861.1 Intron NP_001186790.1
NM_001199862.1 Intron NP_001186791.1
NM_001199863.1 Intron NP_001186792.1
NM_003636.3 Intron NP_003627.1
NM_172130.2 Intron NP_742128.1
XM_005263514.2 Intron XP_005263571.1
XM_011542321.2 Intron XP_011540623.1
XM_011542322.2 Intron XP_011540624.1
XM_017002618.1 Intron XP_016858107.1
XM_017002619.1 Intron XP_016858108.1
XM_017002620.1 Intron XP_016858109.1
XM_017002621.1 Intron XP_016858110.1
Gene
NPHP4
Gene Name
nephronophthisis 4
There are no transcripts associated with this gene.

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