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CCTGCGCACCTGGTTCCTGGTTGAC[C/T]TCATCTCTTCTATCCCTGTGGATTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 602989 MIM: 609973 MIM: 609712 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CLK2 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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CLK2 - CDC like kinase 2 | ||||||
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There are no transcripts associated with this gene. |
HCN3 - hyperpolarization activated cyclic nucleotide gated potassium channel 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020897.2 | 693 | Missense Mutation | CTC,TTC | L,F 177 | NP_065948.1 | |
XM_011509816.2 | 693 | Missense Mutation | CTC,TTC | L,F 130 | XP_011508118.1 | |
XM_011509817.2 | 693 | Missense Mutation | CTC,TTC | L,F 177 | XP_011508119.1 | |
XM_011509818.2 | 693 | Intron | XP_011508120.1 | |||
XM_017001918.1 | 693 | Intron | XP_016857407.1 |
PKLR - pyruvate kinase, liver and RBC | ||||||
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There are no transcripts associated with this gene. |