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TGGAGGACGGGATCTTGTATTCTTC[A/G]GAAGATGGCTGGGAAATTCTTCCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609506 MIM: 613336 MIM: 604466 MIM: 615258 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CYP27B1 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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CYP27B1 - cytochrome P450 family 27 subfamily B member 1 | ||||||
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There are no transcripts associated with this gene. |
MARCH9 - membrane associated ring-CH-type finger 9 | ||||||
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There are no transcripts associated with this gene. |
METTL1 - methyltransferase like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005371.5 | 817 | Nonsense Mutation | CGA,TGA | R,* 257 | NP_005362.3 | |
NM_023033.3 | 817 | UTR 3 | NP_075422.3 | |||
XM_005268873.2 | 817 | Nonsense Mutation | CGA,TGA | R,* 214 | XP_005268930.1 | |
XM_017019305.1 | 817 | Intron | XP_016874794.1 |
METTL21B - methyltransferase like 21B | ||||||
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There are no transcripts associated with this gene. |