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GCAACTGTGGTGTCAAAAATCTGAT[A/G]GCAAATTTGATTATCTGTTCCATTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606478 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
POT1 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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POT1 - protection of telomeres 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042594.1 | 2334 | Missense Mutation | CAT,TAT | H,Y 491 | NP_001036059.1 | |
NM_015450.2 | 2334 | Missense Mutation | CAT,TAT | H,Y 622 | NP_056265.2 | |
XM_006715917.3 | 2334 | Missense Mutation | CAT,TAT | H,Y 622 | XP_006715980.1 | |
XM_011516006.1 | 2334 | Missense Mutation | CAT,TAT | H,Y 491 | XP_011514308.1 | |
XM_011516007.1 | 2334 | Missense Mutation | CAT,TAT | H,Y 491 | XP_011514309.1 | |
XM_017011941.1 | 2334 | Intron | XP_016867430.1 | |||
XM_017011942.1 | 2334 | Missense Mutation | CAT,TAT | H,Y 491 | XP_016867431.1 |