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GCACACATGGGGCAGGGTCCGCGCT[C/T]TCCACACAAGGTGGGGCGCCGGTTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604441 MIM: 610410 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CIDEB 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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CIDEB - cell death-inducing DFFA-like effector b | ||||||
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There are no transcripts associated with this gene. |
DHRS1 - dehydrogenase/reductase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001136050.2 | 121 | Intron | NP_001129522.1 | |||
NM_138452.2 | 121 | Intron | NP_612461.1 |
NOP9 - NOP9 nucleolar protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286367.1 | 121 | Missense Mutation | TCT,TTT | S,F 7 | NP_001273296.1 | |
NM_174913.2 | 121 | Missense Mutation | TCT,TTT | S,F 7 | NP_777573.1 | |
XM_005267385.1 | 121 | Missense Mutation | TCT,TTT | S,F 7 | XP_005267442.1 | |
XM_011536526.1 | 121 | UTR 5 | XP_011534828.1 | |||
XM_011536527.2 | 121 | Missense Mutation | TCT,TTT | S,F 7 | XP_011534829.1 |