Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AAGTACACATTGCCCTGCACGTCTC[C/T]CACGGCAAGCTGCAGGGTGGAGTTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601686 | ||||||||||||||||||||
Literature Links: |
TEP1 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 |
TEP1 - telomerase associated protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319035.1 | 6368 | Missense Mutation | AGA,GGA | R,G 2507 | NP_001305964.1 | |
NM_007110.4 | 6368 | Missense Mutation | AGA,GGA | R,G 2615 | NP_009041.2 | |
XM_005268027.4 | 6368 | Missense Mutation | AGA,GGA | R,G 2615 | XP_005268084.1 | |
XM_011537110.2 | 6368 | Missense Mutation | AGA,GGA | R,G 2092 | XP_011535412.1 |