Product Details

SNP ID
rs146292575
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:135702317 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCGTCTGCCGGGAGGCGCGCGGCG[C/G]GGGCTACACCAACCGGACCTTCGAG
Phenotype
MIM: 608167 MIM: 610224
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KCNT1 PubMed Links

Gene Details

Gene
KCNT1
Gene Name
potassium sodium-activated channel subfamily T member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001272003.1 1511 Missense Mutation GCG,GGG A20G NP_001258932.1
NM_020822.2 1511 Missense Mutation GCG,GGG A20G NP_065873.2
XM_011518877.2 1511 UTR 5 XP_011517179.1
XM_011518878.2 1511 UTR 5 XP_011517180.1
XM_011518879.2 1511 UTR 5 XP_011517181.1
XM_011518880.1 1511 Intron XP_011517182.1
XM_011518881.2 1511 Intron XP_011517183.1
XM_017014931.1 1511 Intron XP_016870420.1
XM_017014932.1 1511 Intron XP_016870421.1
XM_017014933.1 1511 Intron XP_016870422.1
Gene
SOHLH1
Gene Name
spermatogenesis and oogenesis specific basic helix-loop-helix 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001012415.2 1511 Intron NP_001012415.2
NM_001101677.1 1511 Intron NP_001095147.1

View Full Product Details