Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTTAGAAACATGGCCACGAACCTCT[G/T]CAAGTTGTCTTTGTAACTCTGCTAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 610667 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
UCHL5 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
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
|
|||||
AMR
|
UCHL5 - ubiquitin C-terminal hydrolase L5 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199261.1 | 897 | Missense Mutation | GAA,GCA | E,A 243 | NP_001186190.1 | |
NM_001199262.1 | 897 | Missense Mutation | GAA,GCA | E,A 243 | NP_001186191.1 | |
NM_001199263.1 | 897 | Missense Mutation | GAA,GCA | E,A 243 | NP_001186192.1 | |
NM_015984.3 | 897 | Missense Mutation | GAA,GCA | E,A 243 | NP_057068.1 | |
XM_005245244.4 | 897 | Missense Mutation | GAA,GCA | E,A 337 | XP_005245301.1 | |
XM_005245246.4 | 897 | Missense Mutation | GAA,GCA | E,A 310 | XP_005245303.1 | |
XM_005245247.4 | 897 | Missense Mutation | GAA,GCA | E,A 234 | XP_005245304.1 | |
XM_005245248.4 | 897 | Missense Mutation | GAA,GCA | E,A 234 | XP_005245305.1 | |
XM_005245249.4 | 897 | Missense Mutation | GAA,GCA | E,A 119 | XP_005245306.1 | |
XM_006711366.3 | 897 | Missense Mutation | GAA,GCA | E,A 337 | XP_006711429.1 | |
XM_006711367.3 | 897 | Missense Mutation | GAA,GCA | E,A 337 | XP_006711430.1 | |
XM_006711368.3 | 897 | Missense Mutation | GAA,GCA | E,A 337 | XP_006711431.1 | |
XM_006711369.2 | 897 | Missense Mutation | GAA,GCA | E,A 337 | XP_006711432.1 | |
XM_006711370.3 | 897 | Missense Mutation | GAA,GCA | E,A 290 | XP_006711433.3 | |
XM_006711371.3 | 897 | Missense Mutation | GAA,GCA | E,A 146 | XP_006711434.1 | |
XM_011509604.1 | 897 | Missense Mutation | GAA,GCA | E,A 337 | XP_011507906.1 | |
XM_011509607.2 | 897 | Missense Mutation | GAA,GCA | E,A 261 | XP_011507909.1 | |
XM_011509608.2 | 897 | Missense Mutation | GAA,GCA | E,A 233 | XP_011507910.1 | |
XM_011509609.2 | 897 | Missense Mutation | GAA,GCA | E,A 233 | XP_011507911.1 | |
XM_017001429.1 | 897 | Missense Mutation | GAA,GCA | E,A 337 | XP_016856918.1 | |
XM_017001430.1 | 897 | Missense Mutation | GAA,GCA | E,A 337 | XP_016856919.1 | |
XM_017001431.1 | 897 | Missense Mutation | GAA,GCA | E,A 310 | XP_016856920.1 | |
XM_017001432.1 | 897 | Missense Mutation | GAA,GCA | E,A 310 | XP_016856921.1 | |
XM_017001433.1 | 897 | Missense Mutation | GAA,GCA | E,A 310 | XP_016856922.1 | |
XM_017001434.1 | 897 | Missense Mutation | GAA,GCA | E,A 290 | XP_016856923.1 | |
XM_017001435.1 | 897 | Missense Mutation | GAA,GCA | E,A 263 | XP_016856924.1 | |
XM_017001436.1 | 897 | Missense Mutation | GAA,GCA | E,A 206 | XP_016856925.1 | |
XM_017001437.1 | 897 | Missense Mutation | GAA,GCA | E,A 206 | XP_016856926.1 | |
XM_017001438.1 | 897 | Missense Mutation | GAA,GCA | E,A 146 | XP_016856927.1 | |
XM_017001439.1 | 897 | Missense Mutation | GAA,GCA | E,A 146 | XP_016856928.1 | |
XM_017001440.1 | 897 | Missense Mutation | GAA,GCA | E,A 119 | XP_016856929.1 | |
XM_017001441.1 | 897 | Missense Mutation | GAA,GCA | E,A 119 | XP_016856930.1 | |
XM_017001442.1 | 897 | Missense Mutation | GAA,GCA | E,A 119 | XP_016856931.1 | |
XM_017001443.1 | 897 | Missense Mutation | GAA,GCA | E,A 119 | XP_016856932.1 | |
XM_017001444.1 | 897 | Missense Mutation | GAA,GCA | E,A 119 | XP_016856933.1 |