Search Thermo Fisher Scientific
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AATCTGTGGACAAGGTACTGCTCAG[C/T]GAAGCCAGGTTGTATTCAGCTGCGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616261 | ||||||||||||||||||||
Literature Links: |
PUS7 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 |
PUS7 - pseudouridylate synthase 7 (putative) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318163.1 | 2008 | Missense Mutation | CAC,CGC | H,R 667 | NP_001305092.1 | |
NM_001318164.1 | 2008 | Missense Mutation | CAC,CGC | H,R 661 | NP_001305093.1 | |
NM_019042.4 | 2008 | Missense Mutation | CAC,CGC | H,R 661 | NP_061915.2 | |
XM_005250462.3 | 2008 | Missense Mutation | CAC,CGC | H,R 667 | XP_005250519.1 | |
XM_011516336.2 | 2008 | Missense Mutation | CAC,CGC | H,R 633 | XP_011514638.1 | |
XM_017012367.1 | 2008 | Missense Mutation | CAC,CGC | H,R 667 | XP_016867856.1 | |
XM_017012368.1 | 2008 | Missense Mutation | CAC,CGC | H,R 358 | XP_016867857.1 |