Search Thermo Fisher Scientific
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CTGAAGCAGTCGCGTCACGTGGTTC[C/T]GCGAAATGATGTTAGAACTCATAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613552 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GSAP 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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GSAP - gamma-secretase activating protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017439.3 | 2425 | Missense Mutation | CAG,CGG | Q,R 778 | NP_059135.2 | |
XM_011516325.2 | 2425 | Missense Mutation | CAG,CGG | Q,R 796 | XP_011514627.1 | |
XM_011516326.2 | 2425 | Missense Mutation | CAG,CGG | Q,R 778 | XP_011514628.1 | |
XM_011516327.2 | 2425 | Missense Mutation | CAG,CGG | Q,R 796 | XP_011514629.1 | |
XM_011516330.2 | 2425 | Missense Mutation | CAG,CGG | Q,R 581 | XP_011514632.1 | |
XM_011516331.2 | 2425 | Intron | XP_011514633.1 | |||
XM_011516332.2 | 2425 | Intron | XP_011514634.1 | |||
XM_017012343.1 | 2425 | Missense Mutation | CAG,CGG | Q,R 764 | XP_016867832.1 | |
XM_017012344.1 | 2425 | Missense Mutation | CAG,CGG | Q,R 760 | XP_016867833.1 | |
XM_017012345.1 | 2425 | Missense Mutation | CAG,CGG | Q,R 778 | XP_016867834.1 | |
XM_017012346.1 | 2425 | Missense Mutation | CAG,CGG | Q,R 581 | XP_016867835.1 | |
XM_017012347.1 | 2425 | Missense Mutation | CAG,CGG | Q,R 531 | XP_016867836.1 | |
XM_017012348.1 | 2425 | Missense Mutation | CAG,CGG | Q,R 581 | XP_016867837.1 | |
XM_017012349.1 | 2425 | Missense Mutation | CAG,CGG | Q,R 581 | XP_016867838.1 | |
XM_017012350.1 | 2425 | Intron | XP_016867839.1 | |||
XM_017012351.1 | 2425 | Intron | XP_016867840.1 |