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GAAAGGTTTGAGGGCCCAAGATACC[A/G]CCCAGCACTGGCCGGCAGGAGGGAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608167 MIM: 610224 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KCNT1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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KCNT1 - potassium sodium-activated channel subfamily T member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001272003.1 | 4055 | Intron | NP_001258932.1 | |||
NM_020822.2 | 4055 | Intron | NP_065873.2 | |||
XM_011518877.2 | 4055 | Missense Mutation | CAC,CGC | H,R 49 | XP_011517179.1 | |
XM_011518878.2 | 4055 | Missense Mutation | CAC,CGC | H,R 49 | XP_011517180.1 | |
XM_011518879.2 | 4055 | Missense Mutation | CAC,CGC | H,R 49 | XP_011517181.1 | |
XM_011518880.1 | 4055 | Intron | XP_011517182.1 | |||
XM_011518881.2 | 4055 | Intron | XP_011517183.1 | |||
XM_017014931.1 | 4055 | Intron | XP_016870420.1 | |||
XM_017014932.1 | 4055 | Intron | XP_016870421.1 | |||
XM_017014933.1 | 4055 | Intron | XP_016870422.1 |
SOHLH1 - spermatogenesis and oogenesis specific basic helix-loop-helix 1 | ||||||
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There are no transcripts associated with this gene. |