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CTCAGACATGTGTGTCCCAGGTCCC[C/T]GCTGACCTCCTCCAGCACCCCCAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 600275 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NOTCH2 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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NOTCH2 - notch 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001200001.1 | 7655 | Intron | NP_001186930.1 | |||
NM_024408.3 | 7655 | Missense Mutation | CAG,CGG | Q,R 2453 | NP_077719.2 | |
XM_005270901.3 | 7655 | Missense Mutation | CAG,CGG | Q,R 2414 | XP_005270958.1 | |
XM_011541519.2 | 7655 | Missense Mutation | CAG,CGG | Q,R 2449 | XP_011539821.1 | |
XM_011541520.2 | 7655 | Missense Mutation | CAG,CGG | Q,R 2414 | XP_011539822.1 | |
XM_017001372.1 | 7655 | Missense Mutation | CAG,CGG | Q,R 2437 | XP_016856861.1 | |
XM_017001373.1 | 7655 | Missense Mutation | CAG,CGG | Q,R 2414 | XP_016856862.1 |