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TTCTTCCAGTTTTCTCTGCTCCTCT[C/T]GGGAGAGGGTCTCACCTTTCTTTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612395 MIM: 601987 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHKB 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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CHKB - choline kinase beta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005198.4 | 1201 | Missense Mutation | CAA,CGA | Q,R 328 | NP_005189.2 |
CHKB-AS1 - CHKB antisense RNA 1 (head to head) | ||||||
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There are no transcripts associated with this gene. |
CHKB-CPT1B - CHKB-CPT1B readthrough (NMD candidate) | ||||||
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There are no transcripts associated with this gene. |
CPT1B - carnitine palmitoyltransferase 1B | ||||||
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There are no transcripts associated with this gene. |