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AATTTCTGTAACTGCAGCCTGAGAT[C/T]GAAGAATAGACGTGATGTCATTAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
CLHC1 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
|
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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CLHC1 - clathrin heavy chain linker domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135598.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 441 | NP_001129070.1 | |
NM_152385.2 | 5097 | Missense Mutation | CAA,CGA | Q,R 563 | NP_689598.2 | |
XM_005264136.2 | 5097 | Missense Mutation | CAA,CGA | Q,R 563 | XP_005264193.1 | |
XM_006711937.3 | 5097 | Missense Mutation | CAA,CGA | Q,R 446 | XP_006712000.2 | |
XM_006711938.3 | 5097 | Missense Mutation | CAA,CGA | Q,R 283 | XP_006712001.1 | |
XM_006711939.3 | 5097 | Missense Mutation | CAA,CGA | Q,R 269 | XP_006712002.1 | |
XM_011532519.2 | 5097 | Missense Mutation | CAA,CGA | Q,R 563 | XP_011530821.1 | |
XM_011532520.2 | 5097 | Missense Mutation | CAA,CGA | Q,R 563 | XP_011530822.1 | |
XM_011532521.2 | 5097 | Missense Mutation | CAA,CGA | Q,R 563 | XP_011530823.1 | |
XM_011532522.2 | 5097 | Missense Mutation | CAA,CGA | Q,R 563 | XP_011530824.1 | |
XM_011532523.2 | 5097 | Missense Mutation | CAA,CGA | Q,R 563 | XP_011530825.1 | |
XM_011532524.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 563 | XP_011530826.1 | |
XM_011532525.2 | 5097 | Missense Mutation | CAA,CGA | Q,R 563 | XP_011530827.1 | |
XM_011532527.2 | 5097 | Missense Mutation | CAA,CGA | Q,R 441 | XP_011530829.1 | |
XM_011532528.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 441 | XP_011530830.1 | |
XM_011532529.2 | 5097 | Missense Mutation | CAA,CGA | Q,R 441 | XP_011530831.1 | |
XM_011532530.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 441 | XP_011530832.1 | |
XM_011532534.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 423 | XP_011530836.1 | |
XM_011532535.2 | 5097 | Missense Mutation | CAA,CGA | Q,R 396 | XP_011530837.1 | |
XM_017003333.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 497 | XP_016858822.1 | |
XM_017003334.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 497 | XP_016858823.1 | |
XM_017003335.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 441 | XP_016858824.1 | |
XM_017003336.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 441 | XP_016858825.1 | |
XM_017003337.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 441 | XP_016858826.1 | |
XM_017003338.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 441 | XP_016858827.1 | |
XM_017003339.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 437 | XP_016858828.1 | |
XM_017003340.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 423 | XP_016858829.1 | |
XM_017003341.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 423 | XP_016858830.1 | |
XM_017003342.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 423 | XP_016858831.1 | |
XM_017003343.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 375 | XP_016858832.1 | |
XM_017003344.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 375 | XP_016858833.1 | |
XM_017003345.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 375 | XP_016858834.1 | |
XM_017003346.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 371 | XP_016858835.1 | |
XM_017003347.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 357 | XP_016858836.1 | |
XM_017003348.1 | 5097 | Intron | XP_016858837.1 | |||
XM_017003349.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 233 | XP_016858838.1 | |
XM_017003350.1 | 5097 | Missense Mutation | CAA,CGA | Q,R 233 | XP_016858839.1 |