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AATTAAATCAATCTCTTTCTGAACT[C/T]GTCCTGTCAGAGAAAAAGTATTCAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608713 MIM: 602047 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CYP2R1 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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CYP2R1 - cytochrome P450 family 2 subfamily R member 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024514.4 | 1309 | Missense Mutation | CAA,CGA | Q,R 335 | NP_078790.2 | |
XM_005252788.1 | 1309 | Missense Mutation | CAA,CGA | Q,R 287 | XP_005252845.1 | |
XM_005252789.2 | 1309 | Missense Mutation | CAA,CGA | Q,R 281 | XP_005252846.1 | |
XM_011519895.1 | 1309 | Missense Mutation | CAA,CGA | Q,R 220 | XP_011518197.1 | |
XM_011519898.2 | 1309 | Missense Mutation | CAA,CGA | Q,R 220 | XP_011518200.1 | |
XM_017017190.1 | 1309 | Missense Mutation | CAA,CGA | Q,R 280 | XP_016872679.1 | |
XM_017017191.1 | 1309 | Missense Mutation | CAA,CGA | Q,R 220 | XP_016872680.1 | |
XM_017017192.1 | 1309 | Missense Mutation | CAA,CGA | Q,R 220 | XP_016872681.1 | |
XM_017017193.1 | 1309 | Missense Mutation | CAA,CGA | Q,R 220 | XP_016872682.1 | |
XM_017017194.1 | 1309 | Missense Mutation | CAA,CGA | Q,R 220 | XP_016872683.1 | |
XM_017017195.1 | 1309 | Missense Mutation | CAA,CGA | Q,R 220 | XP_016872684.1 |
PDE3B - phosphodiesterase 3B | ||||||
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There are no transcripts associated with this gene. |