Product Details

SNP ID: rs147573824
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:179250792 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTTGTTCCGAGCAAGAAGAACATTA[C/G]GACTGAGAAGCCCATCATGGCAAAC
Phenotype: MIM: 605222
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: KCNMB3 PubMed Links

Gene Details

Gene: KCNMB3
Gene Name: potassium calcium-activated channel subfamily M regulatory beta subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001163677.1	723	Missense Mutation	CTA,GTA	L69V	NP_001157149.1
NM_014407.3	723	Missense Mutation	CTA,GTA	L71V	NP_055222.3
NM_171828.2	723	Missense Mutation	CTA,GTA	L69V	NP_741979.1
NM_171829.2	723	Missense Mutation	CTA,GTA	L49V	NP_741980.1
NM_171830.1	723	Missense Mutation	CTA,GTA	L67V	NP_741981.1