Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACAGGGAGGTGATGCTGGAGACTTA[C/T]AACCATCTGGTCTCACTGGGTAAGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 165250 | ||||||||||||||||||||
Literature Links: |
HKR1 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 |
HKR1 - HKR1, GLI-Kruppel zinc finger family member | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
XM_017026672.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 110 | XP_016882161.1 | |
XM_017026673.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 110 | XP_016882162.1 | |
XM_017026674.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 54 | XP_016882163.1 | |
XM_017026675.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 54 | XP_016882164.1 | |
XM_017026676.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 47 | XP_016882165.1 | |
XM_017026677.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 47 | XP_016882166.1 | |
XM_017026678.1 | 251 | Silent Mutation | TAC,TAT | Y,Y 47 | XP_016882167.1 | |
XM_017026679.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 47 | XP_016882168.1 | |
XM_017026680.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 41 | XP_016882169.1 | |
XM_017026681.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 41 | XP_016882170.1 | |
XM_017026682.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 41 | XP_016882171.1 | |
XM_017026683.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 5 | XP_016882172.1 | |
XM_017026684.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 5 | XP_016882173.1 | |
XM_017026685.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 5 | XP_016882174.1 | |
XM_017026686.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 5 | XP_016882175.1 | |
XM_017026687.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 5 | XP_016882176.1 | |
XM_017026688.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 5 | XP_016882177.1 | |
XM_017026689.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 5 | XP_016882178.1 | |
XM_017026690.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 5 | XP_016882179.1 | |
XM_017026691.1 | 251 | Intron | XP_016882180.1 | |||
XM_017026692.1 | 251 | UTR 5 | XP_016882181.1 | |||
XM_017026693.1 | 251 | UTR 5 | XP_016882182.1 | |||
XM_017026694.1 | 251 | UTR 5 | XP_016882183.1 | |||
XM_017026695.1 | 251 | UTR 5 | XP_016882184.1 | |||
XM_017026696.1 | 251 | UTR 5 | XP_016882185.1 | |||
XM_017026697.1 | 251 | UTR 5 | XP_016882186.1 | |||
XM_017026698.1 | 251 | Intron | XP_016882187.1 | |||
XM_017026699.1 | 251 | UTR 5 | XP_016882188.1 | |||
XM_017026700.1 | 251 | Intron | XP_016882189.1 | |||
XM_017026701.1 | 251 | Intron | XP_016882190.1 | |||
XM_017026702.1 | 251 | Intron | XP_016882191.1 | |||
XM_017026703.1 | 251 | UTR 5 | XP_016882192.1 | |||
XM_017026704.1 | 251 | UTR 5 | XP_016882193.1 | |||
XM_017026705.1 | 251 | Intron | XP_016882194.1 | |||
XM_017026706.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 110 | XP_016882195.1 | |
XM_017026707.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 110 | XP_016882196.1 | |
XM_017026708.1 | 251 | Nonsense Mutation | TAC,TAT | Y,Y 110 | XP_016882197.1 |