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AAATATTATACCCACAGCAAAACCC[C/T]CCCAGCCACACAAGGGCAAGCCAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
3 submissions
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Phenotype: |
MIM: 608003 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HIPK1 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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HIPK1 - homeodomain interacting protein kinase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152696.3 | 484 | Missense Mutation | CCC,CTC | P,L 49 | NP_689909.2 | |
NM_181358.2 | 484 | Intron | NP_852003.1 | |||
NM_198268.2 | 484 | Missense Mutation | CCC,CTC | P,L 49 | NP_938009.1 | |
NM_198269.2 | 484 | Intron | NP_938010.1 | |||
XM_005270609.3 | 484 | Missense Mutation | CCC,CTC | P,L 120 | XP_005270666.1 | |
XM_005270610.4 | 484 | Missense Mutation | CCC,CTC | P,L 120 | XP_005270667.1 | |
XM_005270611.4 | 484 | Missense Mutation | CCC,CTC | P,L 120 | XP_005270668.1 | |
XM_005270612.4 | 484 | Missense Mutation | CCC,CTC | P,L 49 | XP_005270669.1 | |
XM_005270613.4 | 484 | Missense Mutation | CCC,CTC | P,L 49 | XP_005270670.1 | |
XM_006710443.3 | 484 | Missense Mutation | CCC,CTC | P,L 120 | XP_006710506.1 | |
XM_011540977.2 | 484 | Missense Mutation | CCC,CTC | P,L 120 | XP_011539279.1 | |
XM_017000605.1 | 484 | Missense Mutation | CCC,CTC | P,L 49 | XP_016856094.1 | |
XM_017000606.1 | 484 | Missense Mutation | CCC,CTC | P,L 120 | XP_016856095.1 |