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TGGGCCATGAGTGAGGGTGGAGGCC[A/G]AGTCTCATGCATTTTTGCAGCCCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 157140 MIM: 607067 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MAPT 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
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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MAPT - microtubule associated protein tau | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001123066.3 | 50 | Intron | NP_001116538.2 | |||
NM_001123067.3 | 50 | Intron | NP_001116539.1 | |||
NM_001203251.1 | 50 | Intron | NP_001190180.1 | |||
NM_001203252.1 | 50 | Intron | NP_001190181.1 | |||
NM_005910.5 | 50 | Intron | NP_005901.2 | |||
NM_016834.4 | 50 | Intron | NP_058518.1 | |||
NM_016835.4 | 50 | Intron | NP_058519.3 | |||
NM_016841.4 | 50 | Intron | NP_058525.1 | |||
XM_005257362.4 | 50 | Intron | XP_005257419.1 | |||
XM_005257364.4 | 50 | Intron | XP_005257421.1 | |||
XM_005257365.4 | 50 | Intron | XP_005257422.1 | |||
XM_005257366.3 | 50 | Intron | XP_005257423.1 | |||
XM_005257367.4 | 50 | Intron | XP_005257424.1 | |||
XM_005257368.4 | 50 | Intron | XP_005257425.1 | |||
XM_005257369.4 | 50 | Intron | XP_005257426.1 | |||
XM_005257370.4 | 50 | Intron | XP_005257427.1 | |||
XM_005257371.4 | 50 | Intron | XP_005257428.1 |
STH - saitohin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001007532.2 | 50 | Missense Mutation | CAA,CGA | Q,R 7 | NP_001007533.1 |