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GTGGACATGCTCTATCCATGTCTAC[C/T]ATGACTCCCTGGGAATCCATCAAGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609506 MIM: 604466 MIM: 615258 MIM: 604723 | ||||||||||||||||||||
Literature Links: |
CYP27B1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
CYP27B1 - cytochrome P450 family 27 subfamily B member 1 | ||||||
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There are no transcripts associated with this gene. |
METTL1 - methyltransferase like 1 | ||||||
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There are no transcripts associated with this gene. |
METTL21B - methyltransferase like 21B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015433.2 | 515 | Intron | NP_056248.2 | |||
NM_206914.1 | 515 | Silent Mutation | ACC,ACT | T,T 130 | NP_996797.1 |
TSFM - Ts translation elongation factor, mitochondrial | ||||||
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There are no transcripts associated with this gene. |