Product Details

SNP ID

rs523140

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:135700939 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGCCCTCGGAATGTCATCAAACCTG[C/T]GACTCTCCTGCCGTTGACAACACGT

Phenotype

MIM: 608167 MIM: 610224

Polymorphism

C/T, Transition 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	133	Intron			NP_001258932.1
NM_020822.2	133	Intron			NP_065873.2
XM_011518877.2	133	UTR 5			XP_011517179.1
XM_011518878.2	133	UTR 5			XP_011517180.1
XM_011518879.2	133	UTR 5			XP_011517181.1
XM_011518880.1	133	Intron			XP_011517182.1
XM_011518881.2	133	Intron			XP_011517183.1
XM_017014931.1	133	Intron			XP_016870420.1
XM_017014932.1	133	Intron			XP_016870421.1
XM_017014933.1	133	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	133	Intron			NP_001012415.2
NM_001101677.1	133	Intron			NP_001095147.1
XM_005263403.3	133	Intron			XP_005263460.1
XM_006717109.3	133	UTR 5			XP_006717172.1
XM_011518698.2	133	UTR 5			XP_011517000.1

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