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TGGAGGCTGTACTTTAAAAGTAAAC[C/T]TGTTGGATACTTTTGATGGACTAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605405 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
USP6NL 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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USP6NL - USP6 N-terminal like | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080491.3 | 5231 | Missense Mutation | AAG,AGG | K,R 619 | NP_001073960.1 | |
NM_014688.3 | 5231 | Missense Mutation | AAG,AGG | K,R 602 | NP_055503.1 | |
XM_006717542.3 | 5231 | Missense Mutation | AAG,AGG | K,R 630 | XP_006717605.1 | |
XM_011519762.2 | 5231 | Missense Mutation | AAG,AGG | K,R 630 | XP_011518064.1 | |
XM_011519763.2 | 5231 | Missense Mutation | AAG,AGG | K,R 446 | XP_011518065.1 | |
XM_017016971.1 | 5231 | Missense Mutation | AAG,AGG | K,R 620 | XP_016872460.1 | |
XM_017016972.1 | 5231 | Missense Mutation | AAG,AGG | K,R 446 | XP_016872461.1 | |
XM_017016973.1 | 5231 | Missense Mutation | AAG,AGG | K,R 625 | XP_016872462.1 |