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GGGTCTCCGCTGCGGCCCCTGGGCC[C/T]GGGAACTCATCATGGCTGCCTCCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616157 MIM: 131560 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DHRS13 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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DHRS13 - dehydrogenase/reductase 13 | ||||||
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There are no transcripts associated with this gene. |
FLOT2 - flotillin 2 | ||||||
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There are no transcripts associated with this gene. |
PHF12 - PHD finger protein 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001033561.1 | 2583 | Missense Mutation | CAG,CGG | Q,R 915 | NP_001028733.1 | |
NM_001290131.1 | 2583 | Intron | NP_001277060.1 | |||
NM_020889.2 | 2583 | Intron | NP_065940.1 | |||
XM_005258015.3 | 2583 | Missense Mutation | CAG,CGG | Q,R 825 | XP_005258072.1 | |
XM_005258016.3 | 2583 | Missense Mutation | CAG,CGG | Q,R 698 | XP_005258073.1 | |
XM_011525078.2 | 2583 | Missense Mutation | CAG,CGG | Q,R 893 | XP_011523380.1 | |
XM_011525079.2 | 2583 | Missense Mutation | CAG,CGG | Q,R 882 | XP_011523381.1 | |
XM_011525082.2 | 2583 | Intron | XP_011523384.1 | |||
XM_011525083.2 | 2583 | Intron | XP_011523385.1 | |||
XM_017024903.1 | 2583 | Missense Mutation | CAG,CGG | Q,R 933 | XP_016880392.1 | |
XM_017024904.1 | 2583 | Missense Mutation | CAG,CGG | Q,R 884 | XP_016880393.1 |