Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGGCTGCAGTCTTATGACATGACCC[C/A]GTAACGAGAGGATGGATAAACGAGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605284 | ||||||||||||||||||||
Literature Links: |
TSC1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
TSC1 - tuberous sclerosis 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000368.4 | 557 | Missense Mutation | CGG,CTG | R,L 93 | NP_000359.1 | |
NM_001162426.1 | 557 | Missense Mutation | CGG,CTG | R,L 93 | NP_001155898.1 | |
NM_001162427.1 | 557 | Intron | NP_001155899.1 | |||
XM_005272211.1 | 557 | Missense Mutation | CGG,CTG | R,L 93 | XP_005272268.1 | |
XM_006717271.1 | 557 | Missense Mutation | CGG,CTG | R,L 93 | XP_006717334.1 | |
XM_011518979.2 | 557 | Missense Mutation | CGG,CTG | R,L 93 | XP_011517281.1 | |
XM_017015096.1 | 557 | Missense Mutation | CGG,CTG | R,L 93 | XP_016870585.1 | |
XM_017015097.1 | 557 | Missense Mutation | CGG,CTG | R,L 93 | XP_016870586.1 | |
XM_017015098.1 | 557 | Missense Mutation | CGG,CTG | R,L 93 | XP_016870587.1 | |
XM_017015099.1 | 557 | UTR 5 | XP_016870588.1 | |||
XM_017015100.1 | 557 | UTR 5 | XP_016870589.1 | |||
XM_017015101.1 | 557 | UTR 5 | XP_016870590.1 |