Product Details

SNP ID

rs201483476

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:135695052 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCACACCACCTGGGCACTCACCC[A/G]GCCTCCTGCGCCAGCATGGGGTCCT

Phenotype

MIM: 608167 MIM: 610224

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KCNT1 PubMed Links

Gene Details

Gene

KCNT1

Gene Name

potassium sodium-activated channel subfamily T member 1

There are no transcripts associated with this gene.

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	2010	Silent Mutation	GCC,GCT	A291A	NP_001012415.2
NM_001101677.1	2010	Silent Mutation	GCC,GCT	A291A	NP_001095147.1
XM_005263403.3	2010	Silent Mutation	GCC,GCT	A291A	XP_005263460.1
XM_006717109.3	2010	Silent Mutation	GCC,GCT	A223A	XP_006717172.1
XM_011518698.2	2010	Silent Mutation	GCC,GCT	A291A	XP_011517000.1

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